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

3 papers

NM_002890.3

p.G156V

c.467G>T

Surrounding Variants

1 paper

NM_002890.3

p.G156S

c.466G>A

1 paper

NM_002890.3

p.G156C

c.466G>T

5 papers

NM_002890.3

p.D157N

c.469G>A

1 paper

NM_002890.3

p.D157Y

c.469G>T

1 paper

NM_002890.3

p.E155A

c.464A>C

1 paper

NM_002890.3

p.D157G

c.470A>G

11 papers

NM_002890.3

p.L159delFs

c.475_476delCT

1 paper

NM_002890.3

p.D157E

c.471C>A

1 paper

NM_002890.3

p.D157E

c.471C>G

2 papers

NM_002890.3

p.E155*

c.463G>T

1 paper

NM_002890.3

p.D154E

c.462C>A

1 paper

NM_002890.3

p.D154E

c.462C>G