Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.W52*

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.W52*
c.156G>A
Surrounding Variants
1 paper
NM_017866.6
p.W52*
c.155G>A
4 papers
NM_017866.6
p.P48fs
c.142_143fs
4 papers
NM_017866.6
p.G47delFs
c.141delG
1 paper
NM_017866.6
p.S43N
c.128G>A
1 paper
NM_017866.6
p.L62P
c.185T>C
1 paper
NM_017866.6
p.S40C
c.119C>G
15 papers
NM_017866.6
p.A39_S40insFs
c.117_118dupGT
1 paper
NM_017866.6
p.P66A
c.196C>G
2 papers
NM_017866.6
p.V36fs
c.106_107fs
2 papers
NM_017866.6
p.V36fs
c.106_107fs
4 papers
NM_017866.6
p.S35insFs
c.105dupT
1 paper
NM_017866.6
p.Q70delFs
c.209delA
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