Varaico: Literature-Extracted Genetic Variants

Gene:TIMM50
Variant:p.D121V

TIMM50

54 papers

RefSeq Summary

This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or ...

Pfam Domains

NIFaa 148–295UCSCNLI interacting factor-like phosphatase

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 50

HGNC Alias Symbols

TIM50L; TIM50

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001563.5
p.D121V
c.362A>T
Surrounding Variants
6 papers
NM_001001563.5
p.R114Q
c.341G>A
2 papers
NM_001001563.5
p.R114W
c.340C>T
2 papers
NM_001001563.5
p.R113C
c.337C>T
3 papers
NM_001001563.5
p.T149M
c.446C>T
1 paper
NM_001001563.5
p.T155del1
c.463_464delACC
1 paper
NM_001001563.5
p.S164S
c.492G>A
1 paper
NM_001001563.5
p.R170W
c.508A>T
1 paper
NM_001001563.5
p.A201delFs
c.603delG
1 paper
NM_001001563.5
p.V208_S215del0
c.624_644del21
1 paper
NM_001001563.5
p.R217C
c.649C>T
2 papers
NM_001001563.5
p.A222T
c.664G>A
1 paper
NM_001001563.5
p.D103N
c.307G>A
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