Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A4
Variant:p.S800P

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.S800P
c.2398T>C
Surrounding Variants
1 paper
NM_020632.3
p.E797delFs
c.2390_2391delCT
1 paper
NM_020632.3
p.H804R
c.2411A>G
1 paper
NM_020632.3
p.H804Q
c.2412C>G
1 paper
NM_020632.3
p.H804Q
c.2412C>A
5 papers
NM_020632.3
p.R807*
c.2419C>T
15 papers
NM_020632.3
p.R807Q
c.2420G>A
2 papers
NM_020632.3
p.H809R
c.2426A>G
3 papers
NM_020632.3
p.H809P
c.2426A>C
1 paper
NM_020632.3
p.R807_H809del3
c.2419_2426del9
1 paper
NM_020632.3
p.T789P
c.2365A>C
1 paper
NM_020632.3
p.L788P
c.2363T>C
2 papers
NM_020632.3
p.F785fs
c.2353_2354fs
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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."