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.G499Fs

c.1495delinsCTACCFs

Surrounding Variants

2 papers

NM_002890.3

p.G499fs

c.1495_1496fs

1 paper

NM_002890.3

p.E498E

c.1494G>A

1 paper

NM_002890.3

p.E498D

c.1494G>C

1 paper

NM_002890.3

p.E498_G499insFs

c.1494_1495ins4

1 paper

NM_002890.3

p.E498D

c.1494G>T

1 paper

NM_002890.3

p.G499insFs

c.1495dupG

2 papers

NM_002890.3

p.E498_G499insFs

c.1494_1495dupGG

1 paper

NM_002890.3

p.E498*

c.1492G>T

1 paper

NM_002890.3

p.E498fs

c.1492_1493fs

1 paper

NM_002890.3

p.S500N

c.1499G>A

2 papers

NM_002890.3

p.L497*

c.1490T>A

3 papers

NM_002890.3

p.L497*

c.1490T>G