Varaico: Literature-Extracted Genetic Variants

RASA1

1,546 papers

RefSeq Summary

The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its...

Pfam Domains

SH2aa 181–256UCSCSH2 domain

SH3_1aa 285–333UCSCSH3 domain

SH2aa 351–426UCSCSH2 domain

PHaa 475–577UCSCPH domain

C2aa 594–692UCSCC2 domain

RasGAPaa 769–841UCSCGTPase-activator protein for Ras-like GTPase

Gene Aliases

HGNC Name

RAS p21 protein activator 1

HGNC Alias Symbols

CM-AVM; p120GAP; p120RASGAP; p120

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002890.3

p.D421V

c.1262A>T

Surrounding Variants

1 paper

NM_002890.3

p.D421G

c.1262A>G

3 papers

NM_002890.3

p.I423_D424insFs

c.1269_1270insTA

1 paper

NM_002890.3

p.I423delFs

c.1267delA

1 paper

NM_002890.3

p.I423_Y426del4

c.1267_1277del12

1 paper

NM_002890.3

p.G420R

c.1258G>A

1 paper

NM_002890.3

p.I419T

c.1256T>C

1 paper

NM_002890.3

p.I423T

c.1268T>C

1 paper

NM_002890.3

p.D424insFs

c.1270dupG

1 paper

NM_002890.3

p.I419delFs

c.1255delA

1 paper

NM_002890.3

p.D424Y

c.1270G>T

1 paper

NM_002890.3

p.S418Splc

c.1254-1G>A

1 paper

NM_002890.3

p.D424E

c.1272T>A