Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.R449H

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
11 papers
NM_020632.3
p.R449H
c.1346G>A
Surrounding Variants
8 papers
NM_020632.3
p.R449C
c.1345C>T
1 paper
NM_020632.3
p.Y450*
c.1350T>G
1 paper
NM_020632.3
p.Y450*
c.1350T>A
2 papers
NM_020632.3
p.G448R
c.1342G>C
2 papers
NM_020632.3
p.G448R
c.1342G>A
2 papers
NM_020632.3
p.F446del1
c.1336_1337delGAA
2 papers
NM_020632.3
p.F445L
c.1335C>G
2 papers
NM_020632.3
p.F445L
c.1335C>A
1 paper
NM_020632.3
p.F445C
c.1334T>G
2 papers
NM_020632.3
p.F445L
c.1333T>C
1 paper
NM_020632.3
p.M455insFs
c.1363dupA
2 papers
NM_020632.3
p.G456D
c.1367G>A
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