Varaico: Literature-Extracted Genetic Variants

Gene:TIMM44

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
1–12 of 53 variants
10 papers
NM_006351.4
p.P308Q
c.923C>A
3 papers
NM_006351.4
p.G62S
c.184G>A
3 papers
NM_006351.4
p.S115N
c.344G>A
2 papers
NM_006351.4
p.W10R
c.28T>C
2 papers
NM_006351.4
p.W10R
c.28T>A
2 papers
NM_006351.4
p.S164C
c.491C>G
2 papers
NM_006351.4
p.F310L
c.928T>C
2 papers
NM_006351.4
p.F310L
c.930T>G
2 papers
NM_006351.4
p.F310L
c.930T>A
2 papers
NM_006351.4
p.A436V
c.1307C>T
1 paper
NM_006351.4
p.R15_R16Splc
c.45+1G>T
1 paper
NM_006351.4
p.R15_R16Splc
c.45+8G>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."