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.E10D

c.30G>T

Surrounding Variants

1 paper

NM_002890.3

p.E10D

c.30G>C

1 paper

NM_002890.3

p.G11insFs

c.31dupG

1 paper

NM_002890.3

p.E10A

c.29A>C

2 papers

NM_002890.3

p.E10G

c.29A>G

2 papers

NM_002890.3

p.E10V

c.29A>T

1 paper

NM_002890.3

p.G11D

c.32G>A

19 papers

NM_002890.3

p.G12S

c.34G>A

8 papers

NM_002890.3

p.G12R

c.34G>C

27 papers

NM_002890.3

p.G12C

c.34G>T

48 papers

NM_002890.3

p.G12D

c.35G>A

12 papers

NM_002890.3

p.G12A

c.35G>C

1 paper

NM_002890.3

p.E9_E10insA

c.25_29ins3