Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D10C
Variant:p.R363Q

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
2 papers
NM_001369496.1
p.R363Q
c.1088G>A
Surrounding Variants
1 paper
NM_001369496.1
p.R367C
c.1099C>T
1 paper
NM_001369496.1
p.A357V
c.1070C>T
1 paper
NM_001369496.1
p.A351delFs
c.1052_1053delCC
1 paper
NM_001369496.1
p.S338*
c.1013C>A
1 paper
NM_001369496.1
p.S338*
c.1013C>G
1 paper
NM_001369496.1
p.R406W
c.1216C>T
1 paper
NM_001369496.1
p.I428fs
c.1282_1283fs
1 paper
NM_001369496.1
p.E429insFs
c.1285_1286insC
1 paper
NM_001369496.1
p.L442V
c.1324C>G
1 paper
NM_001369496.1
p.R445H
c.1334G>A
1 paper
NM_001369496.1
p.F328insFs
c.982_983insC
1 paper
NM_001369496.1
p.E325K
c.973G>A
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