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

2 papers

NM_002890.3

p.R674H

c.2021G>A

Surrounding Variants

1 paper

NM_002890.3

p.R674P

c.2021G>C

1 paper

NM_002890.3

p.R674C

c.2020C>T

1 paper

NM_002890.3

p.M673L

c.2017A>C

1 paper

NM_002890.3

p.M673L

c.2017A>T

1 paper

NM_002890.3

p.Q676_L677del2

c.2026_2030del6

1 paper

NM_002890.3

p.Q676K

c.2026C>A

3 papers

NM_002890.3

p.Q676*

c.2026C>T

3 papers

NM_002890.3

p.Q676insFs

c.2027_2028insC

1 paper

NM_002890.3

p.L671F

c.2013A>C

1 paper

NM_002890.3

p.S678insFs

c.2033_2034insCG

3 papers

NM_002890.3

p.S678insFs

c.2033_2034insC

1 paper

NM_002890.3

p.L671Splc

c.2012-4C>T