Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D20
Variant:p.G213R

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.G213R
c.637G>A
Surrounding Variants
1 paper
NM_144628.4
p.G213R
c.637G>C
1 paper
NM_144628.4
p.G213G
c.639G>C
1 paper
NM_144628.4
p.T214delFs
c.641delG
1 paper
NM_144628.4
p.A217delFs
c.650delG
1 paper
NM_144628.4
p.T214_S219delFs
c.640_656del17
1 paper
NM_144628.4
p.W224*
c.671G>A
1 paper
NM_144628.4
p.W224*
c.672G>A
2 papers
NM_144628.4
p.D231_V235del0
c.692_703del12
1 paper
NM_144628.4
p.E262delFs
c.785delT
1 paper
NM_144628.4
p.Y288_L298delFs
c.863_893del31
1 paper
NM_144628.4
p.S209insFs
c.625dupA
1 paper
NM_144628.4
p.S209fs
c.625_626fs
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