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.L692V

c.2074C>G

Surrounding Variants

1 paper

NM_002890.3

p.L692L

c.2076C>G

1 paper

NM_002890.3

p.L692L

c.2076C>T

1 paper

NM_002890.3

p.L691V

c.2071C>G

1 paper

NM_002890.3

p.S693R

c.2079C>G

2 papers

NM_002890.3

p.S694_I696delFs

c.2081_2087del7

1 paper

NM_002890.3

p.F690C

c.2069T>G

2 papers

NM_002890.3

p.S694fs

c.2080_2081fs

1 paper

NM_002890.3

p.H695N

c.2083C>A

1 paper

NM_002890.3

p.H695Y

c.2083C>T

2 papers

NM_002890.3

p.W689R

c.2065T>A

2 papers

NM_002890.3

p.W689R

c.2065T>C

5 papers

NM_002890.3

p.H695L

c.2084A>T