Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1H
Variant:p.M460L

ATP6V1H

110 papers

RefSeq Summary

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

Pfam Domains

V-ATPase_H_Naa 17–342UCSCV-ATPase subunit H
V-ATPase_H_Caa 348–464UCSCV-ATPase subunit H

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit H

HGNC Alias Symbols

CGI-11; SFD; VMA13; SFDalpha; SFDbeta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015941.4
p.M460L
c.1378A>T
Surrounding Variants
2 papers
NM_015941.4
p.M460L
c.1378A>C
1 paper
NM_015941.4
p.R449H
c.1346G>A
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