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

11 papers

NM_002890.3

p.E5Q

c.13G>C

Surrounding Variants

1 paper

NM_002890.3

p.E5K

c.13G>A

1 paper

NM_002890.3

p.E5G

c.14A>G

1 paper

NM_002890.3

p.E5delFs

c.15delG

1 paper

NM_002890.3

p.A4A

c.12C>A

1 paper

NM_002890.3

p.A4A

c.12C>G

2 papers

NM_002890.3

p.A4V

c.11C>T

1 paper

NM_002890.3

p.E5E

c.15G>A

1 paper

NM_002890.3

p.A6T

c.16G>A

2 papers

NM_002890.3

p.A6V

c.17C>T

1 paper

NM_002890.3

p.A3_A4insFs

c.9_10insA

2 papers

NM_002890.3

p.A3V

c.8C>T

1 paper

NM_002890.3

p.A3P

c.7G>C