Varaico: Literature-Extracted Genetic Variants

Gene:ATP5PD
Variant:p.M1V

ATP5PD

30 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

Mt_ATP-synt_Daa 3–155UCSCATP synthase D chain, mitochondrial (ATP5H)

Gene Aliases

HGNC Name

ATP synthase peripheral stalk subunit d

HGNC Previous Symbol

ATP5H

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006356.3
p.M1V
c.1A>G
Surrounding Variants
2 papers
NM_006356.3
p.M1T
c.2T>C
1 paper
NM_006356.3
p.I20K
c.59T>A
1 paper
NM_006356.3
p.S40insFs
c.118_119insGT
1 paper
NM_006356.3
p.E47delFs
c.141delC
1 paper
NM_006356.3
p.K72N
c.216G>T
1 paper
NM_006356.3
p.K72N
c.216G>C
1 paper
NM_006356.3
p.F74fs
c.220_221fs
1 paper
NM_006356.3
p.A76T
c.226G>A
1 paper
NM_006356.3
p.P80S
c.238C>T
1 paper
NM_006356.3
p.P82L
c.245C>T
1 paper
NM_006356.3
p.D97_V98Splc
c.292-36C>T
1 paper
NM_006356.3
p.L107V
c.319C>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."