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.P719T

c.2155C>A

Surrounding Variants

1 paper

NM_002890.3

p.P719delins

c.2155_2156delinsTA

1 paper

NM_002890.3

p.M718I

c.2154G>A

1 paper

NM_002890.3

p.M718I

c.2154G>C

1 paper

NM_002890.3

p.M718I

c.2154G>T

1 paper

NM_002890.3

p.M718T

c.2153T>C

1 paper

NM_002890.3

p.E720_E728delFs

c.2160_2184del25

1 paper

NM_002890.3

p.I717F

c.2149A>T

1 paper

NM_002890.3

p.K716I

c.2147A>T

2 papers

NM_002890.3

p.E722A

c.2165A>C

1 paper

NM_002890.3

p.E715G

c.2144A>G

2 papers

NM_002890.3

p.E715*

c.2143G>T

2 papers

NM_002890.3

p.Y723C

c.2168A>G