Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D3C

TBC1D3C

21 papers

RefSeq Summary

This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase si...

Gene Aliases

HGNC Name

TBC1 domain family member 3C

HGNC Alias Symbol

MGC44903

Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
2 papers
NM_001001418.6
p.P109L
c.326C>T
2 papers
NM_001001418.6
p.M110V
c.328A>G
2 papers
NM_001001418.6
p.R137K
c.410G>A
2 papers
NM_001001418.6
p.R399W
c.1195C>T
1 paper
NM_001001418.6
p.G8D
c.23G>A
1 paper
NM_001001418.6
p.D17H
c.49G>C
1 paper
NM_001001418.6
p.R97L
c.290G>T
1 paper
NM_001001418.6
p.R97Q
c.290G>A
1 paper
NM_001001418.6
p.Y99*
c.297C>G
1 paper
NM_001001418.6
p.Y99*
c.297C>A
1 paper
NM_001001418.6
p.M102I
c.306G>T
1 paper
NM_001001418.6
p.M102I
c.306G>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."