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.A108S

c.322G>T

Surrounding Variants

2 papers

NM_002890.3

p.A108insFs

c.322_323insGT

1 paper

NM_002890.3

p.V107V

c.321T>A

2 papers

NM_002890.3

p.G109R

c.325G>A

1 paper

NM_002890.3

p.V107I

c.319G>A

1 paper

NM_002890.3

p.V107L

c.319G>C

1 paper

NM_002890.3

p.P110R

c.329C>G

1 paper

NM_002890.3

p.A105T

c.313G>A

1 paper

NM_002890.3

p.G104S

c.310G>A

1 paper

NM_002890.3

p.A103T

c.307G>A

1 paper

NM_002890.3

p.D113H

c.337G>C

1 paper

NM_002890.3

p.D113V

c.338A>T

1 paper

NM_002890.3

p.V102A

c.305T>C