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.A46A

c.138C>G

Surrounding Variants

1 paper

NM_002890.3

p.A47fs

c.139_140fs

1 paper

NM_002890.3

p.A47V

c.140C>T

3 papers

NM_002890.3

p.P48T

c.142C>A

1 paper

NM_002890.3

p.P48delins

c.142_143delinsTT

2 papers

NM_002890.3

p.P48H

c.143C>A

2 papers

NM_002890.3

p.P48L

c.143C>T

1 paper

NM_002890.3

p.A45T

c.133G>A

1 paper

NM_002890.3

p.V44A

c.131T>C

8 papers

NM_002890.3

p.Y49F

c.146A>T

1 paper

NM_002890.3

p.V44M

c.130G>A

1 paper

NM_002890.3

p.P50H

c.149C>A

2 papers

NM_002890.3

p.P43S

c.127C>T