Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1H
Variant:p.K3R

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
1 paper
NM_015941.4
p.K3R
c.8A>G
Surrounding Variants
1 paper
NM_015941.4
p.M4I
c.12G>A
1 paper
NM_015941.4
p.V10E
c.29T>A
1 paper
NM_015941.4
p.V14D
c.41T>A
1 paper
NM_015941.4
p.N29S
c.86A>G
1 paper
NM_015941.4
p.M41I
c.123G>T
1 paper
NM_015941.4
p.M41I
c.123G>C
1 paper
NM_015941.4
p.M41I
c.123G>A
1 paper
NM_015941.4
p.E48K
c.142G>A
1 paper
NM_015941.4
p.E48D
c.144G>T
1 paper
NM_015941.4
p.E48D
c.144G>C
1 paper
NM_015941.4
p.R57P
c.170G>C
1 paper
NM_015941.4
p.R57_S58insFs
c.171_172insG
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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."