PiSITE

PDB ID	2GSB	CHAIN	A
Protein name	Ras GTPase-activating protein 1
Uniprot Accession	P20936
The number of similar proteins	3
The number of binding states	1
The number of binding partners	0

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	2GSB (CHAIN: A)
1	Monomeric state

Downdload

Molecule viewer

Only interaction residues

#binding
partners

Sequence information

GSSGSSGREE

DPHEGKIWFH

GKISKQEAYN

LLMTVGQVCS

FLVRPSDNTP

GDYSLYFRTN

ENIQRFKICP

TPNNQFMMGG

RYYNSIGDII

DHYRKEQIVE

100

101

GYYLKEPVPM

QDQSGPSSG

150

Variants

Residue	AA	Source	dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	Disease name
18_TRP	TER	ClinVar chr5:86642491	rs1758886343	Pathogenic	-	Capillary malformation-arteriovenous malformation syndrome\|Capillary malformation-arteriovenous malformation 1 [MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667\|MONDO:MONDO:0020783,MedGen:C4747394,OMIM:608354,Orphanet:137667,Orphanet:90307]
18_TRP	TER	ClinVar chr5:86642492	-	Pathogenic	-	Capillary malformation-arteriovenous malformation syndrome [MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667]
25_LYS	TER	8.3kJPN chr5:86642511	-	-	0.0001	-
26_GLN	LEU	8.3kJPN chr5:86642515	rs746551717	-	0.0001	-
65_ARG	LEU	VAR_002650	rs137853214	US	-	Basal cell carcinomas
65_ARG	LEU	ClinVar chr5:86645121	rs137853214	Pathogenic	-	Basal cell carcinoma, somatic [MedGen:C3838465]
65_ARG	TER	ClinVar chr5:86645120	rs1210180190	Pathogenic	-	Capillary malformation-arteriovenous malformation syndrome\|not provided [MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667\|MedGen:C3661900]
67_LYS	GLU	VAR_002651	rs137853215	US	-	Basal cell carcinomas
67_LYS	GLU	ClinVar chr5:86645126	rs137853215	Pathogenic	-	Basal cell carcinoma, somatic [MedGen:C3838465]
68_ILE	VAL	VAR_002652	rs137853216	US	-	Basal cell carcinomas
68_ILE	VAL	ClinVar chr5:86645129	rs137853216	Pathogenic	-	Basal cell carcinoma, somatic [MedGen:C3838465]
75_GLN	TER	ClinVar chr5:86645150	rs1759093156	Pathogenic	-	Capillary malformation-arteriovenous malformation syndrome [MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667]
81_ARG	TRP	8.3kJPN chr5:86645168	-	-	0.0001	-
83_TYR	TER	ClinVar chr5:86645176	rs1561300506	Pathogenic	-	not provided\|Capillary malformation-arteriovenous malformation syndrome [MedGen:C3661900\|MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667]
94_ARG	TER	ClinVar chr5:86648999	rs975191415	Pathogenic	-	not provided\|Capillary malformation-arteriovenous malformation syndrome [MedGen:C3661900\|MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667]
109_PRO	SER	gnomAD chr5:86649044	rs532587037	-	0.000104158	-
113_GLN	TER	ClinVar chr5:86658371	rs2112456363	Pathogenic	-	Capillary malformation-arteriovenous malformation syndrome [MONDO:MONDO:0012016,MedGen:C1842180,OMIM:PS608354,Orphanet:137667]

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