Varaico: Literature-Extracted Genetic Variants

Gene:TIMM44
Variant:p.W10R

TIMM44

60 papers

RefSeq Summary

This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into...

Pfam Domains

Tim44aa 296–445UCSCTim44-like domain

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 44

HGNC Alias Symbol

TIM44

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006351.4
p.W10R
c.28T>C
Surrounding Variants
2 papers
NM_006351.4
p.W10R
c.28T>A
1 paper
NM_006351.4
p.R15_R16Splc
c.45+1G>T
1 paper
NM_006351.4
p.R15_R16Splc
c.45+8G>A
1 paper
NM_006351.4
p.S20G
c.58A>G
1 paper
NM_006351.4
p.Y36N
c.106T>A
1 paper
NM_006351.4
p.P46S
c.136C>T
1 paper
NM_006351.4
p.S61F
c.182C>T
3 papers
NM_006351.4
p.G62S
c.184G>A
1 paper
NM_006351.4
p.N66Y
c.196A>T
1 paper
NM_006351.4
p.R101R
c.303A>G
1 paper
NM_006351.4
p.Y104Y
c.312C>T
1 paper
NM_006351.4
p.Y104_K105Splc
c.313-15G>A
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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."