Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.I117fs

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.I117fs
c.349_350fs
Surrounding Variants
1 paper
NM_017866.6
p.I117V
c.349A>G
2 papers
NM_017866.6
p.L116V
c.346C>G
2 papers
NM_017866.6
p.I117_G118delFs
c.349_352del4
14 papers
NM_017866.6
p.G118_L119insGT
c.352_356ins6
5 papers
NM_017866.6
p.T120delFs
c.359delC
1 paper
NM_017866.6
p.S113S
c.339T>C
1 paper
NM_017866.6
p.S113F
c.338C>T
7 papers
NM_017866.6
p.Y112*
c.336T>A
4 papers
NM_017866.6
p.Y112*
c.336T>G
51 papers
NM_017866.6
p.G106Splc
c.317-2A>G
3 papers
NM_017866.6
p.I147T
c.440T>C
1 paper
NM_017866.6
p.G149delFs
c.446delG
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