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

2 papers

NM_002890.3

p.A148Fs

c.442_443delinsTFs

Surrounding Variants

2 papers

NM_002890.3

p.A148fs

c.442_443fs

1 paper

NM_002890.3

p.A148delins

c.443delinsT

2 papers

NM_002890.3

p.G147R

c.439G>A

2 papers

NM_002890.3

p.G147R

c.439G>C

1 paper

NM_002890.3

p.L146F

c.438G>C

1 paper

NM_002890.3

p.L146F

c.438G>T

1 paper

NM_002890.3

p.G149_L150insFs

c.447_448ins4

2 papers

NM_002890.3

p.L146S

c.437T>C

3 papers

NM_002890.3

p.L146W

c.437T>G

1 paper

NM_002890.3

p.L150I

c.448C>A

1 paper

NM_002890.3

p.P145delFs

c.435delT

1 paper

NM_002890.3

p.P145_G151Fs

c.434_451delinsAFs