Varaico: Literature-Extracted Genetic Variants

Gene:ATP5MC1
Variant:p.M1T

ATP5MC1

31 papers

RefSeq Summary

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidati...

Pfam Domains

ATP-synt_Caa 70–132UCSCATP synthase subunit C

Gene Aliases

HGNC Name

ATP synthase membrane subunit c locus 1

HGNC Previous Symbols

ATP5G; ATP5G1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005175.3
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_005175.3
p.M1fs
c.1_2fs
1 paper
NM_005175.3
p.M1V
c.1A>G
1 paper
NM_005175.3
p.A4V
c.11C>T
1 paper
NM_005175.3
p.G5delFs
c.15delG
1 paper
NM_005175.3
p.R23G
c.67A>G
1 paper
NM_005175.3
p.S32R
c.94A>C
1 paper
NM_005175.3
p.S32R
c.96C>A
1 paper
NM_005175.3
p.S32R
c.96C>G
1 paper
NM_005175.3
p.P40insFs
c.118_119insGT
1 paper
NM_005175.3
p.N44K
c.132C>A
1 paper
NM_005175.3
p.N44K
c.132C>G
1 paper
NM_005175.3
p.S60T
c.178T>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."