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.R711del1

c.2131_2132delCGA

Surrounding Variants

2 papers

NM_002890.3

p.R711G

c.2131C>G

11 papers

NM_002890.3

p.R711*

c.2131C>T

3 papers

NM_002890.3

p.R711Q

c.2132G>A

1 paper

NM_002890.3

p.R709Q

c.2126G>A

1 paper

NM_002890.3

p.R711P

c.2132G>C

1 paper

NM_002890.3

p.R711L

c.2132G>T

13 papers

NM_002890.3

p.R709*

c.2125C>T

1 paper

NM_002890.3

p.Y712D

c.2134T>G

1 paper

NM_002890.3

p.Y712delFs

c.2135delA

1 paper

NM_002890.3

p.Y712fs

c.2134_2135fs

1 paper

NM_002890.3

p.Y712C

c.2135A>G

1 paper

NM_002890.3

p.Y712*

c.2136C>A