Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1F

ATP6V1F

15 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_Faa 8–109UCSCATP synthase (F/14-kDa) subunit

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit F

HGNC Alias Symbols

ATP6S14; VATF; Vma7

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
2 papers
NM_004231.4
p.R4M
c.11G>T
1 paper
NM_004231.4
p.A2V
c.5C>T
1 paper
NM_004231.4
p.G5V
c.14G>T
1 paper
NM_004231.4
p.N29_K30del0
c.85_90del6
1 paper
NM_004231.4
p.N35S
c.104A>G
1 paper
NM_004231.4
p.D42G
c.125A>G
1 paper
NM_004231.4
p.T44N
c.131C>A
1 paper
NM_004231.4
p.I63F
c.187A>T
1 paper
NM_004231.4
p.E72K
c.214G>A
1 paper
NM_004231.4
p.I85_E90del6
c.253_269del18
1 paper
NM_004231.4
p.S93S
c.279C>T
1 paper
NM_004231.4
p.A101T
c.301G>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."