Varaico: Literature-Extracted Genetic Variants

Gene:TOMM34
Variant:p.K72N

TOMM34

18 papers

RefSeq Summary

The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins a...

Pfam Domains

TPR_1aa 227–260UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

translocase of outer mitochondrial membrane 34

HGNC Alias Symbols

TOM34; HTOM34P

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006809.5
p.K72N
c.216A>C
Surrounding Variants
1 paper
NM_006809.5
p.K72N
c.216A>T
1 paper
NM_006809.5
p.G43Splc
c.127+1G>T
1 paper
NM_006809.5
p.L36delFs
c.108delC
1 paper
NM_006809.5
p.Q24P
c.71A>C
1 paper
NM_006809.5
p.A2V
c.5C>T
1 paper
NM_006809.5
p.R127Splc
c.381-1G>C
1 paper
NM_006809.5
p.W140R
c.418T>C
1 paper
NM_006809.5
p.W140R
c.418T>A
1 paper
NM_006809.5
p.E199_G200insW
c.595_599ins3
1 paper
NM_006809.5
p.G200_N201insV
c.598_602ins3
1 paper
NM_006809.5
p.C222Y
c.665G>A
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