Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D3B

TBC1D3B

36 papers

RefSeq Summary

This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling ...

Pfam Domains

RabGAP-TBCaa 104–313UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 3B

HGNC Alias Symbol

PRC17

Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
4 papers
NM_001001417.7
p.S510G
c.1528A>G
2 papers
NM_001001417.7
p.L122S
c.365T>C
2 papers
NM_001001417.7
p.G126R
c.376G>C
2 papers
NM_001001417.7
p.G126R
c.376G>A
2 papers
NM_001001417.7
p.R127K
c.380G>A
2 papers
NM_001001417.7
p.E169D
c.507A>T
2 papers
NM_001001417.7
p.G276R
c.826G>C
2 papers
NM_001001417.7
p.G276R
c.826G>A
2 papers
NM_001001417.7
p.Q354K
c.1060C>A
2 papers
NM_001001417.7
p.A495insFs
c.1484dupC
2 papers
NM_001001417.7
p.A495fs
c.1483_1484fs
2 papers
NM_001001417.7
p.A507T
c.1519G>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."