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.L519*

c.1556T>G

Surrounding Variants

1 paper

NM_002890.3

p.L519*

c.1556T>A

2 papers

NM_002890.3

p.D521Y

c.1561G>T

1 paper

NM_002890.3

p.L522F

c.1564C>T

1 paper

NM_002890.3

p.L522H

c.1565T>A

1 paper

NM_002890.3

p.S523G

c.1567A>G

1 paper

NM_002890.3

p.P516delFs

c.1546delC

1 paper

NM_002890.3

p.S523N

c.1568G>A

4 papers

NM_002890.3

p.V524_C525insFs

c.1572_1575dup4

1 paper

NM_002890.3

p.V524insFs

c.1570_1571insTA

1 paper

NM_002890.3

p.V524L

c.1570G>T

1 paper

NM_002890.3

p.V524A

c.1571T>C

1 paper

NM_002890.3

p.C525R

c.1573T>C