Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.T193fs

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.T193fs
c.577_578fs
Surrounding Variants
7 papers
NM_017866.6
p.T193delFs
c.578_579delCA
4 papers
NM_017866.6
p.V194M
c.580G>A
1 paper
NM_017866.6
p.Q197*
c.589C>T
4 papers
NM_017866.6
p.L188P
c.563T>C
1 paper
NM_017866.6
p.D199G
c.596A>G
1 paper
NM_017866.6
p.A205T
c.613G>A
7 papers
NM_017866.6
p.Y179H
c.535T>C
1 paper
NM_017866.6
p.T178A
c.532A>G
1 paper
NM_017866.6
p.F209del1
c.625_626delTTT
9 papers
NM_017866.6
p.T210P
c.628A>C
3 papers
NM_017866.6
p.T210A
c.628A>G
1 paper
NM_017866.6
p.H172R
c.515A>G
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