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.G101D

c.302G>A

Surrounding Variants

1 paper

NM_002890.3

p.V102L

c.304G>C

1 paper

NM_002890.3

p.V102L

c.304G>T

1 paper

NM_002890.3

p.G101_A108del0

c.302_322del21

1 paper

NM_002890.3

p.V102A

c.305T>C

1 paper

NM_002890.3

p.V102G

c.305T>G

2 papers

NM_002890.3

p.A100T

c.298G>A

1 paper

NM_002890.3

p.A103T

c.307G>A

1 paper

NM_002890.3

p.A99G

c.296C>G

6 papers

NM_002890.3

p.A99V

c.296C>T

1 paper

NM_002890.3

p.G104S

c.310G>A

1 paper

NM_002890.3

p.A98V

c.293C>T

1 paper

NM_002890.3

p.A105T

c.313G>A