Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.F817L

ATP6V0A4

239 papers

RefSeq Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is ne...

Pfam Domains

V_ATPase_Iaa 27–830UCSCV-type ATPase 116kDa subunit family

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit a4

HGNC Previous Symbols

ATP6N1B; ATP6N2; RTA1C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020632.3
p.F817L
c.2449T>C
Surrounding Variants
1 paper
NM_020632.3
p.F817L
c.2451C>G
1 paper
NM_020632.3
p.F817L
c.2451C>A
11 papers
NM_020632.3
p.G820R
c.2458G>C
10 papers
NM_020632.3
p.G820R
c.2458G>A
1 paper
NM_020632.3
p.G822S
c.2464G>A
1 paper
NM_020632.3
p.W810Splc
c.2430-19G>T
1 paper
NM_020632.3
p.F828_K831del4
c.2482_2492del12
1 paper
NM_020632.3
p.D835N
c.2503G>A
1 paper
NM_020632.3
p.E840A
c.2519A>C
3 papers
NM_020632.3
p.*841Q
c.2521T>C
1 paper
NM_020632.3
p.W810Splc
c.2430-147C>T
1 paper
NM_020632.3
p.R807_H809del3
c.2419_2426del9
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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."