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.A3P

c.7G>C

Surrounding Variants

2 papers

NM_002890.3

p.A3V

c.8C>T

1 paper

NM_002890.3

p.A3_A4insFs

c.9_10insA

1 paper

NM_002890.3

p.M2insFs

c.5_6insA

2 papers

NM_002890.3

p.M2insFs

c.4_5insT

1 paper

NM_002890.3

p.M2Fs

c.4delinsGTFs

2 papers

NM_002890.3

p.A4V

c.11C>T

2 papers

NM_002890.3

p.M1I

c.3G>A

1 paper

NM_002890.3

p.M1I

c.3G>C

4 papers

NM_002890.3

p.M1_M2insFs

c.3_4insA

3 papers

NM_002890.3

p.M1_M2insFs

c.3_4insT

1 paper

NM_002890.3

p.M1_M2insFs

c.3_4ins4

1 paper

NM_002890.3

p.M1I

c.3G>T