Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.T250A

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
2 papers
NM_017866.6
p.T250A
c.748A>G
Surrounding Variants
2 papers
NM_017866.6
p.R255R
c.765G>A
1 paper
NM_017866.6
p.E241fs
c.721_722fs
2 papers
NM_017866.6
p.D259E
c.777C>A
2 papers
NM_017866.6
p.D259E
c.777C>G
3 papers
NM_017866.6
p.K240_E241delFs
c.720_723del4
1 paper
NM_017866.6
p.D239G
c.716A>G
2 papers
NM_017866.6
p.*261W
c.783A>G
1 paper
NM_017866.6
p.L235V
c.703C>G
3 papers
NM_017866.6
p.H234P
c.701A>C
1 paper
NM_017866.6
p.D231E
c.693C>A
1 paper
NM_017866.6
p.D231E
c.693C>G
1 paper
NM_017866.6
p.N228K
c.684C>A
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."