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.G19V

c.56G>T

Surrounding Variants

2 papers

NM_002890.3

p.G19G

c.57A>G

1 paper

NM_002890.3

p.G19R

c.55G>A

1 paper

NM_002890.3

p.A18A

c.54T>A

1 paper

NM_002890.3

p.A18G

c.53C>G

1 paper

NM_002890.3

p.A18V

c.53C>T

2 papers

NM_002890.3

p.G20E

c.59G>A

1 paper

NM_002890.3

p.G20V

c.59G>T

1 paper

NM_002890.3

p.A18insFs

c.53_54insC

1 paper

NM_002890.3

p.A18delFs

c.53delC

1 paper

NM_002890.3

p.G21insFs

c.61_62insCT

4 papers

NM_002890.3

p.G17E

c.50G>A

2 papers

NM_002890.3

p.G21A

c.62G>C