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.V348G

c.1043T>G

Surrounding Variants

1 paper

NM_007368.4

p.P350S

c.1048C>T

1 paper

NM_007368.4

p.A358T

c.1072G>A

1 paper

NM_007368.4

p.K361R

c.1082A>G

1 paper

NM_007368.4

p.L324L

c.972G>A

1 paper

NM_007368.4

p.V316M

c.946G>A

1 paper

NM_007368.4

p.D298_Y299delFs

c.892_895del4

1 paper

NM_007368.4

p.D298fs

c.892_893fs

1 paper

NM_007368.4

p.H293P

c.878A>C

1 paper

NM_007368.4

p.Y289C

c.866A>G

1 paper

NM_007368.4

p.D279N

c.835G>A

1 paper

NM_007368.4

p.R371*

c.1111C>T

2 papers

NM_007368.4

p.R371Q

c.1112G>A