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.V127L

c.379G>C

Surrounding Variants

1 paper

NM_007368.4

p.V127L

c.379G>T

9 papers

NM_007368.4

p.G125V

c.374G>T

1 paper

NM_007368.4

p.R132W

c.394C>T

1 paper

NM_007368.4

p.L147delFs

c.439delG

1 paper

NM_007368.4

p.A148delFs

c.442delC

1 paper

NM_007368.4

p.V160L

c.478G>T

1 paper

NM_007368.4

p.V160L

c.478G>C

1 paper

NM_007368.4

p.A173T

c.517G>A

1 paper

NM_007368.4

p.E201_V202Splc

c.603+110C>T

1 paper

NM_007368.4

p.G239R

c.715G>C

1 paper

NM_007368.4

p.S256P

c.766T>C