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.L143R

c.428T>G

Surrounding Variants

1 paper

NM_002890.3

p.L143P

c.428T>C

1 paper

NM_002890.3

p.Y142insFs

c.426dupC

1 paper

NM_002890.3

p.Y142S

c.425A>C

1 paper

NM_002890.3

p.P144H

c.431C>A

1 paper

NM_002890.3

p.Y142fs

c.424_425fs

1 paper

NM_002890.3

p.P141L

c.422C>T

1 paper

NM_002890.3

p.P145delFs

c.435delT

1 paper

NM_002890.3

p.P145_G151Fs

c.434_451delinsAFs

1 paper

NM_002890.3

p.P141T

c.421C>A

1 paper

NM_002890.3

p.P141insFs

c.421_422insT

1 paper

NM_002890.3

p.P141_Y142delFs

c.423_426del4

1 paper

NM_002890.3

p.P140P

c.420C>T