Varaico: Literature-Extracted Genetic Variants

Gene:TIMM17B

TIMM17B

18 papers

RefSeq Summary

This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins fr...

Pfam Domains

Tim17aa 13–123UCSCTim17/Tim22/Tim23/Pmp24 family

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 17B

HGNC Alias Symbols

DXS9822; JM3

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_001395498.1
p.L122fs
c.364_365fs
1 paper
NM_001395498.1
p.M1insFs
c.1_2ins8
1 paper
NM_001395498.1
p.Y4Y
c.12C>T
1 paper
NM_001395498.1
p.R6W
c.16C>T
1 paper
NM_001395498.1
p.C9Splc
c.26+1G>T
1 paper
NM_001395498.1
p.V42I
c.124G>A
1 paper
NM_001395498.1
p.G64Splc
c.191-1G>C
1 paper
NM_001395498.1
p.R82W
c.244C>T
1 paper
NM_001395498.1
p.V129I
c.385G>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."