Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.I147T

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.I147T
c.440T>C
Surrounding Variants
1 paper
NM_017866.6
p.G149delFs
c.446delG
4 papers
NM_017866.6
p.V157E
c.470T>A
1 paper
NM_017866.6
p.L158insFs
c.472_473insC
1 paper
NM_017866.6
p.H160P
c.479A>C
10 papers
NM_017866.6
p.G165D
c.494G>A
1 paper
NM_017866.6
p.Y166delFs
c.497_498delAT
1 paper
NM_017866.6
p.H172R
c.515A>G
5 papers
NM_017866.6
p.T120delFs
c.359delC
14 papers
NM_017866.6
p.G118_L119insGT
c.352_356ins6
1 paper
NM_017866.6
p.I117V
c.349A>G
1 paper
NM_017866.6
p.I117fs
c.349_350fs
1 paper
NM_017866.6
p.T178A
c.532A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."