Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D10C
Variant:p.G53_H54insFs

TBC1D10C

27 papers

RefSeq Summary

The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phos...

Pfam Domains

RabGAP-TBCaa 95–295UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 10C

HGNC Alias Symbols

FLJ00332; Carabin; EPI64C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001369496.1
p.G53_H54insFs
c.159_160insC
Surrounding Variants
1 paper
NM_001369496.1
p.R63G
c.187C>G
2 papers
NM_001369496.1
p.R63Q
c.188G>A
1 paper
NM_001369496.1
p.M132I
c.396G>A
1 paper
NM_001369496.1
p.M132I
c.396G>C
1 paper
NM_001369496.1
p.M132I
c.396G>T
1 paper
NM_001369496.1
p.E133K
c.397G>A
1 paper
NM_001369496.1
p.R35S
c.103C>A
1 paper
NM_001369496.1
p.E194D
c.582G>C
1 paper
NM_001369496.1
p.E194D
c.582G>T
1 paper
NM_001369496.1
p.R220Q
c.659G>A
1 paper
NM_001369496.1
p.G247R
c.739G>A
1 paper
NM_001369496.1
p.G247R
c.739G>C
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