Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0C
Variant:p.I41M

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.I41M
c.123T>G
Surrounding Variants
1 paper
NM_001694.4
p.A42A
c.126G>A
1 paper
NM_001694.4
p.G40D
c.119G>A
1 paper
NM_001694.4
p.T39N
c.116C>A
1 paper
NM_001694.4
p.S45delFs
c.134_135delCT
2 papers
NM_001694.4
p.S45fs
c.133_134fs
1 paper
NM_001694.4
p.R48W
c.142C>T
2 papers
NM_001694.4
p.R48P
c.143G>C
2 papers
NM_001694.4
p.E50V
c.149A>T
1 paper
NM_001694.4
p.Y32C
c.95A>G
2 papers
NM_001694.4
p.Y32F
c.95A>T
2 papers
NM_001694.4
p.M53R
c.158T>G
2 papers
NM_001694.4
p.G29S
c.85G>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."