Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D20
Variant:p.R51S

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
Selected Variant
1 paper
NM_144628.4
p.R51S
c.153A>T
Surrounding Variants
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.Q38*
c.112C>T
4 papers
NM_144628.4
p.R67*
c.199C>T
2 papers
NM_144628.4
p.Q98*
c.292C>T
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
1 paper
NM_144628.4
p.E135G
c.404A>G
1 paper
NM_144628.4
p.L140_Y142del0
c.418_426del9
1 paper
NM_144628.4
p.G158R
c.472G>C
1 paper
NM_144628.4
p.L174F
c.520C>T
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