Varaico: Literature-Extracted Genetic Variants

Gene:RASA3
Variant:p.D101G

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.D101G
c.302A>G
Surrounding Variants
1 paper
NM_007368.4
p.Q98fs
c.292_293fs
3 papers
NM_007368.4
p.V117M
c.349G>A
1 paper
NM_007368.4
p.G93Splc
c.278-197G>A
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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."