Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D20

TBC1D20

33 papers

RefSeq Summary

This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) ...

Pfam Domains

RabGAP-TBCaa 63–266UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 20

HGNC Previous Symbol

C20orf140

Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
4 papers
NM_144628.4
p.R67*
c.199C>T
2 papers
NM_144628.4
p.Q98*
c.292C>T
2 papers
NM_144628.4
p.D231_V235del0
c.692_703del12
2 papers
NM_144628.4
p.M339T
c.1016T>C
1 paper
NM_144628.4
p.Q7*
c.19C>T
1 paper
NM_144628.4
p.Q38*
c.112C>T
1 paper
NM_144628.4
p.R51S
c.153A>T
1 paper
NM_144628.4
p.R51S
c.153A>C
1 paper
NM_144628.4
p.I55delFs
c.163delT
1 paper
NM_144628.4
p.R105W
c.313C>T
1 paper
NM_144628.4
p.Q118fs
c.352_353fs
1 paper
NM_144628.4
p.Q118delFs
c.352_353delTG
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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."