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.E70D

c.210G>T

Surrounding Variants

1 paper

NM_002890.3

p.E70D

c.210G>C

6 papers

NM_002890.3

p.E70G

c.209A>G

2 papers

NM_002890.3

p.F71L

c.211T>C

2 papers

NM_002890.3

p.E70Q

c.208G>C

1 paper

NM_002890.3

p.E70*

c.208G>T

2 papers

NM_002890.3

p.F71L

c.213C>A

2 papers

NM_002890.3

p.F71L

c.213C>G

1 paper

NM_002890.3

p.L72I

c.214C>A

2 papers

NM_002890.3

p.G68V

c.203G>T

2 papers

NM_002890.3

p.G68R

c.202G>A

2 papers

NM_002890.3

p.G68R

c.202G>C

1 paper

NM_002890.3

p.L67L

c.199T>C