Varaico: Literature-Extracted Genetic Variants

Gene:ATP5ME
Variant:p.M1K

ATP5ME

14 papers

RefSeq Summary

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subu...

Pfam Domains

ATP-synt_Eaa 2–68UCSCATP synthase E chain

Gene Aliases

HGNC Name

ATP synthase membrane subunit e

HGNC Previous Symbol

ATP5I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007100.4
p.M1K
c.2T>A
Surrounding Variants
1 paper
NM_007100.4
p.M1T
c.2T>C
1 paper
NM_007100.4
p.M1V
c.1A>G
1 paper
NM_007100.4
p.P3S
c.7C>T
1 paper
NM_007100.4
p.P9R
c.26C>G
1 paper
NM_007100.4
p.F20Y
c.59T>A
1 paper
NM_007100.4
p.Y25C
c.74A>G
1 paper
NM_007100.4
p.R36Q
c.107G>A
1 paper
NM_007100.4
p.E40insFs
c.118_119insGT
1 paper
NM_007100.4
p.E47delFs
c.141delC
1 paper
NM_007100.4
p.K49E
c.145A>G
1 paper
NM_007100.4
p.R59S
c.177A>T
1 paper
NM_007100.4
p.K69*
c.205A>T
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