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.V77L

c.229G>T

Surrounding Variants

1 paper

NM_002890.3

p.V77M

c.229G>A

1 paper

NM_002890.3

p.V77V

c.231G>A

1 paper

NM_002890.3

p.G75E

c.224G>A

6 papers

NM_002890.3

p.G75A

c.224G>C

1 paper

NM_002890.3

p.G79E

c.236G>A

1 paper

NM_002890.3

p.G79G

c.237G>A

1 paper

NM_002890.3

p.A80T

c.238G>A

1 paper

NM_002890.3

p.L72I

c.214C>A

1 paper

NM_002890.3

p.G82R

c.244G>A

1 paper

NM_002890.3

p.G82R

c.244G>C

1 paper

NM_002890.3

p.G82W

c.244G>T

2 papers

NM_002890.3

p.F71L

c.213C>A