Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70

TMEM70

123 papers

RefSeq Summary

This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mi...

Pfam Domains

TMEM70aa 91–238UCSCTMEM70/TMEM186/TMEM223 protein family

Gene Aliases

HGNC Name

transmembrane protein 70

HGNC Alias Symbols

MC5DN2; FLJ20533

Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
51 papers
NM_017866.6
p.G106Splc
c.317-2A>G
15 papers
NM_017866.6
p.A39_S40insFs
c.117_118dupGT
14 papers
NM_017866.6
p.G118_L119insGT
c.352_356ins6
10 papers
NM_017866.6
p.G165D
c.494G>A
9 papers
NM_017866.6
p.T210P
c.628A>C
8 papers
NM_017866.6
p.R80*
c.238C>T
7 papers
NM_017866.6
p.Y112*
c.336T>A
7 papers
NM_017866.6
p.Y179H
c.535T>C
7 papers
NM_017866.6
p.T193delFs
c.578_579delCA
6 papers
NM_017866.6
p.G106Splc
c.316+1G>T
5 papers
NM_017866.6
p.T120delFs
c.359delC
4 papers
NM_017866.6
p.S35insFs
c.105dupT
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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."