Varaico: Literature-Extracted Genetic Variants

Gene:TIMM23
Variant:p.G65*

TIMM23

67 papers

RefSeq Summary

The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple trans...

Pfam Domains

Tim17aa 76–188UCSCTim17/Tim22/Tim23/Pmp24 family

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 23

HGNC Alias Symbol

TIM23

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006327.4
p.G65*
c.193G>T
Surrounding Variants
1 paper
NM_006327.4
p.T69S
c.205A>T
1 paper
NM_006327.4
p.F60I
c.178T>A
1 paper
NM_006327.4
p.G71G
c.213C>A
1 paper
NM_006327.4
p.F77C
c.230T>G
1 paper
NM_006327.4
p.G82A
c.245G>C
2 papers
NM_006327.4
p.G87Splc
c.260-1G>C
1 paper
NM_006327.4
p.G95A
c.284G>C
1 paper
NM_006327.4
p.L98P
c.293T>C
2 papers
NM_006327.4
p.R112G
c.334A>G
1 paper
NM_006327.4
p.L131L
c.391C>T
1 paper
NM_006327.4
p.G132S
c.394G>A
1 paper
NM_006327.4
p.R149L
c.446G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."