Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.N222S

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.N222S
c.665A>G
Surrounding Variants
1 paper
NM_017866.6
p.V221fs
c.661_662fs
1 paper
NM_017866.6
p.V221_N222delFs
c.661_664del4
1 paper
NM_017866.6
p.T216I
c.647C>T
1 paper
NM_017866.6
p.N228K
c.684C>A
1 paper
NM_017866.6
p.N228K
c.684C>G
1 paper
NM_017866.6
p.D231E
c.693C>A
1 paper
NM_017866.6
p.D231E
c.693C>G
3 papers
NM_017866.6
p.H234P
c.701A>C
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.L235V
c.703C>G
1 paper
NM_017866.6
p.F209del1
c.625_626delTTT
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