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

5 papers

NM_002890.3

p.R427Q

c.1280G>A

Surrounding Variants

1 paper

NM_002890.3

p.K428_E429delFs

c.1284_1287del4

10 papers

NM_002890.3

p.R427*

c.1279C>T

5 papers

NM_002890.3

p.Y426C

c.1277A>G

1 paper

NM_002890.3

p.Y426H

c.1276T>C

2 papers

NM_002890.3

p.E429*

c.1285G>T

1 paper

NM_002890.3

p.H425N

c.1273C>A

1 paper

NM_002890.3

p.H425Y

c.1273C>T

2 papers

NM_002890.3

p.Q430_I431delFs

c.1290_1291delGA

2 papers

NM_002890.3

p.Q430fs

c.1288_1289fs

1 paper

NM_002890.3

p.D424E

c.1272T>A

1 paper

NM_002890.3

p.D424E

c.1272T>G

1 paper

NM_002890.3

p.D424Y

c.1270G>T