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.I171insFs

c.512dupT

Surrounding Variants

4 papers

NM_002890.3

p.I171delFs

c.512delT

1 paper

NM_002890.3

p.A170V

c.509C>T

1 paper

NM_002890.3

p.A170P

c.508G>C

1 paper

NM_002890.3

p.A170S

c.508G>T

1 paper

NM_002890.3

p.P172R

c.515C>G

1 paper

NM_002890.3

p.P172Fs

c.515_516delinsTFs

1 paper

NM_002890.3

p.L173W

c.518T>G

1 paper

NM_002890.3

p.L173F

c.519G>C

1 paper

NM_002890.3

p.L173F

c.519G>T

1 paper

NM_002890.3

p.E168K

c.502G>A

1 paper

NM_002890.3

p.E167A

c.500A>C

1 paper

NM_002890.3

p.A175G

c.524C>G