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.G161R

c.481G>A

Surrounding Variants

1 paper

NM_002890.3

p.D160fs

c.478_479fs

1 paper

NM_002890.3

p.P162L

c.485C>T

1 paper

NM_002890.3

p.L159fs

c.475_476fs

1 paper

NM_002890.3

p.L159V

c.475C>G

7 papers

NM_002890.3

p.L159fs

c.475_476fs

1 paper

NM_002890.3

p.E163K

c.487G>A

1 paper

NM_002890.3

p.E163D

c.489A>C

1 paper

NM_002890.3

p.E163D

c.489A>T

1 paper

NM_002890.3

p.S158C

c.473C>G

1 paper

NM_002890.3

p.D157E

c.471C>A

1 paper

NM_002890.3

p.D157E

c.471C>G

1 paper

NM_002890.3

p.D157G

c.470A>G