Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.T97P

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
Selected Variant
3 papers
NM_017866.6
p.T97P
c.289A>C
Surrounding Variants
1 paper
NM_017866.6
p.T97I
c.290C>T
1 paper
NM_017866.6
p.G106S
c.316G>A
4 papers
NM_017866.6
p.G106Splc
c.316+1G>A
6 papers
NM_017866.6
p.G106Splc
c.316+1G>T
2 papers
NM_017866.6
p.T84M
c.251C>T
3 papers
NM_017866.6
p.T84delFs
c.251delC
1 paper
NM_017866.6
p.R80Q
c.239G>A
8 papers
NM_017866.6
p.R80*
c.238C>T
1 paper
NM_017866.6
p.Y74H
c.220T>C
1 paper
NM_017866.6
p.Q70_I71Splc
c.211-6C>T
1 paper
NM_017866.6
p.Q70_I71Splc
c.211-30A>G
51 papers
NM_017866.6
p.G106Splc
c.317-2A>G
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