Varaico: Literature-Extracted Genetic Variants

Gene:TIMM44
Variant:p.R206*

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
1 paper
NM_006351.4
p.R206*
c.616C>T
Surrounding Variants
1 paper
NM_006351.4
p.V194I
c.580G>A
1 paper
NM_006351.4
p.E225E
c.675G>A
1 paper
NM_006351.4
p.Q181_G182Splc
c.544-4G>A
1 paper
NM_006351.4
p.E228Splc
c.683+16T>A
1 paper
NM_006351.4
p.K165R
c.494A>G
2 papers
NM_006351.4
p.S164C
c.491C>G
1 paper
NM_006351.4
p.D238E
c.714C>G
1 paper
NM_006351.4
p.D238E
c.714C>A
1 paper
NM_006351.4
p.R257Splc
c.769+1G>T
1 paper
NM_006351.4
p.R277Q
c.830G>A
1 paper
NM_006351.4
p.G288Splc
c.862+42C>T
1 paper
NM_006351.4
p.G288Splc
c.863-40C>T
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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."