Varaico: Literature-Extracted Genetic Variants

Gene:RASA3
Variant:p.Y37insFs

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 12–114UCSCC2 domain
C2aa 12–114UCSCC2 domain
C2aa 145–265UCSCC2 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.Y37insFs
c.109_110insTG
Surrounding Variants
1 paper
NM_007368.4
p.T39M
c.116C>T
1 paper
NM_007368.4
p.P30L
c.89C>T
1 paper
NM_007368.4
p.G29V
c.86G>T
2 papers
NM_007368.4
p.R49K
c.146G>A
1 paper
NM_007368.4
p.G19Splc
c.56-1782G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."