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.Q681*

c.2041C>T

Surrounding Variants

1 paper

NM_002890.3

p.L680S

c.2039T>C

1 paper

NM_002890.3

p.R679_L680insFs

c.2037_2038insT

1 paper

NM_002890.3

p.R679Q

c.2036G>A

1 paper

NM_002890.3

p.R679P

c.2036G>C

11 papers

NM_002890.3

p.R679*

c.2035C>T

1 paper

NM_002890.3

p.G683V

c.2048G>T

3 papers

NM_002890.3

p.S678insFs

c.2033_2034insC

1 paper

NM_002890.3

p.S678insFs

c.2033_2034insCG

1 paper

NM_002890.3

p.A685G

c.2054C>G

3 papers

NM_002890.3

p.Q676insFs

c.2027_2028insC

1 paper

NM_002890.3

p.T686A

c.2056A>G

1 paper

NM_002890.3

p.Q676K

c.2026C>A