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.Y435*

c.1305T>G

Surrounding Variants

1 paper

NM_002890.3

p.Y435*

c.1305T>A

1 paper

NM_002890.3

p.G434E

c.1301G>A

1 paper

NM_002890.3

p.G434V

c.1301G>T

1 paper

NM_002890.3

p.G434*

c.1300G>T

5 papers

NM_002890.3

p.L437R

c.1310T>G

1 paper

NM_002890.3

p.E433K

c.1297G>A

1 paper

NM_002890.3

p.V432delFs

c.1295_1296delTT

2 papers

NM_002890.3

p.P440S

c.1318C>T

1 paper

NM_002890.3

p.I431T

c.1292T>C

1 paper

NM_002890.3

p.I431S

c.1292T>G

1 paper

NM_002890.3

p.V441L

c.1321G>C

2 papers

NM_002890.3

p.Q430_I431delFs

c.1290_1291delGA