Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0C
Variant:p.M131I

ATP6V0C

35 papers

RefSeq Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is nec...

Pfam Domains

ATP-synt_Caa 17–76UCSCATP synthase subunit C
ATP-synt_Caa 93–152UCSCATP synthase subunit C

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit c

HGNC Previous Symbols

ATPL; ATP6C; ATP6L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001694.4
p.M131I
c.393G>C
Surrounding Variants
1 paper
NM_001694.4
p.M131I
c.393G>A
1 paper
NM_001694.4
p.M131I
c.393G>T
2 papers
NM_001694.4
p.I132N
c.395T>A
1 paper
NM_001694.4
p.V129M
c.385G>A
1 paper
NM_001694.4
p.R126Q
c.377G>A
2 papers
NM_001694.4
p.F137L
c.409T>C
2 papers
NM_001694.4
p.F137L
c.411C>A
2 papers
NM_001694.4
p.F137L
c.411C>G
2 papers
NM_001694.4
p.A138P
c.412G>C
1 paper
NM_001694.4
p.E139A
c.416A>C
1 paper
NM_001694.4
p.E139V
c.416A>T
1 paper
NM_001694.4
p.L141I
c.421C>A
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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."