Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.L199*

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.L199*
c.596T>A
Surrounding Variants
1 paper
NM_020632.3
p.Y198insFs
c.592_593insT
1 paper
NM_020632.3
p.N196N
c.588C>T
1 paper
NM_020632.3
p.N196K
c.588C>G
1 paper
NM_020632.3
p.N196K
c.588C>A
1 paper
NM_020632.3
p.S202R
c.604A>C
1 paper
NM_020632.3
p.S202R
c.606T>G
1 paper
NM_020632.3
p.S202R
c.606T>A
13 papers
NM_020632.3
p.R194*
c.580C>T
1 paper
NM_020632.3
p.C193S
c.578G>C
1 paper
NM_020632.3
p.D205V
c.614A>T
1 paper
NM_020632.3
p.C193S
c.577T>A
1 paper
NM_020632.3
p.I192N
c.575T>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."