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.T87_G88del2

c.259_263del6

Surrounding Variants

1 paper

NM_002890.3

p.L86delFs

c.258delG

1 paper

NM_002890.3

p.L86L

c.256C>T

1 paper

NM_002890.3

p.T87P

c.259A>C

2 papers

NM_002890.3

p.T87A

c.259A>G

1 paper

NM_002890.3

p.T87_G88delFs

c.261_262delAG

1 paper

NM_002890.3

p.G85E

c.254G>A

2 papers

NM_002890.3

p.G85delFs

c.255delA

2 papers

NM_002890.3

p.G85R

c.253G>A

2 papers

NM_002890.3

p.G85R

c.253G>C

1 paper

NM_002890.3

p.G88W

c.262G>T

1 paper

NM_002890.3

p.A84T

c.250G>A

1 paper

NM_002890.3

p.A84_G85insTT

c.250_254ins6