Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.Y166delFs

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
1 paper
NM_017866.6
p.Y166delFs
c.497_498delAT
Surrounding Variants
10 papers
NM_017866.6
p.G165D
c.494G>A
1 paper
NM_017866.6
p.H160P
c.479A>C
1 paper
NM_017866.6
p.H172R
c.515A>G
1 paper
NM_017866.6
p.L158insFs
c.472_473insC
4 papers
NM_017866.6
p.V157E
c.470T>A
1 paper
NM_017866.6
p.T178A
c.532A>G
7 papers
NM_017866.6
p.Y179H
c.535T>C
1 paper
NM_017866.6
p.G149delFs
c.446delG
3 papers
NM_017866.6
p.I147T
c.440T>C
4 papers
NM_017866.6
p.L188P
c.563T>C
7 papers
NM_017866.6
p.T193delFs
c.578_579delCA
1 paper
NM_017866.6
p.T193fs
c.577_578fs
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