Varaico: Literature-Extracted Genetic Variants

RASA3

98 papers

RefSeq Summary

This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. I...

Pfam Domains

C2aa 12–114UCSCC2 domain

C2aa 145–265UCSCC2 domain

RasGAPaa 351–423UCSCGTPase-activator protein for Ras-like GTPase

Gene Aliases

HGNC Name

RAS p21 protein activator 3

HGNC Alias Symbols

GAP1IP4BP; GAPIII

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007368.4

p.P688L

c.2063C>T

Surrounding Variants

1 paper

NM_007368.4

p.P707L

c.2120C>T

1 paper

NM_007368.4

p.A654V

c.1961C>T

1 paper

NM_007368.4

p.R653C

c.1957C>T

1 paper

NM_007368.4

p.G714G

c.2142C>T

1 paper

NM_007368.4

p.G715C

c.2143G>T

1 paper

NM_007368.4

p.N719S

c.2156A>G

1 paper

NM_007368.4

p.R728C

c.2182C>T

2 papers

NM_007368.4

p.E729Q

c.2185G>C

1 paper

NM_007368.4

p.E729G

c.2186A>G

2 papers

NM_007368.4

p.K614E

c.1840A>G

1 paper

NM_007368.4

p.R604C

c.1810C>T

2 papers

NM_007368.4

p.R601K

c.1802G>A