Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D3B
Variant:p.Y99*

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
Selected Variant
1 paper
NM_001001417.7
p.Y99*
c.297C>A
Surrounding Variants
1 paper
NM_001001417.7
p.Y99*
c.297C>G
1 paper
NM_001001417.7
p.I117T
c.350T>C
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
1 paper
NM_001001417.7
p.Q129K
c.385C>A
1 paper
NM_001001417.7
p.R137W
c.409A>T
1 paper
NM_001001417.7
p.I149V
c.445A>G
1 paper
NM_001001417.7
p.D84E
c.252C>G
1 paper
NM_001001417.7
p.D84E
c.252C>A
1 paper
NM_001001417.7
p.H156D
c.466C>G
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