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.V14E

c.41T>A

Surrounding Variants

1 paper

NM_002890.3

p.V14G

c.41T>G

2 papers

NM_002890.3

p.V14I

c.40G>A

1 paper

NM_002890.3

p.V14L

c.40G>C

1 paper

NM_002890.3

p.V14L

c.40G>T

1 paper

NM_002890.3

p.T15S

c.43A>T

1 paper

NM_002890.3

p.T15delFs

c.44delC

1 paper

NM_002890.3

p.P13P

c.39G>A

1 paper

NM_002890.3

p.P13L

c.38C>T

1 paper

NM_002890.3

p.T15_A16insFs

c.45_46insT

1 paper

NM_002890.3

p.T15T

c.45A>T

1 paper

NM_002890.3

p.P13insFs

c.37_38insA

2 papers

NM_002890.3

p.P13S

c.37C>T