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

1–12 of 1602 variants

56 papers

NM_002890.3

p.G12V

c.35G>T

48 papers

NM_002890.3

p.G12D

c.35G>A

27 papers

NM_002890.3

p.G12C

c.34G>T

19 papers

NM_002890.3

p.G12S

c.34G>A

13 papers

NM_002890.3

p.R709*

c.2125C>T

12 papers

NM_002890.3

p.G12A

c.35G>C

12 papers

NM_002890.3

p.Y528C

c.1583A>G

11 papers

NM_002890.3

p.E5Q

c.13G>C

11 papers

NM_002890.3

p.L159delFs

c.475_476delCT

11 papers

NM_002890.3

p.R679*

c.2035C>T

11 papers

NM_002890.3

p.R711*

c.2131C>T

10 papers

NM_002890.3

p.R427*

c.1279C>T