Varaico: Literature-Extracted Genetic Variants

ATP6AP1

819 papers

RefSeq Summary

This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP ca...

Pfam Domains

BIG1_Naa 40–235UCSCBIG1 N-terminal domain

VAS1_LDaa 264–405UCSCV-type proton ATPase subunit S1, luminal domain

Ac45-VOA1_TMaa 420–458UCSCV0 complex accessory subunit Ac45/VOA1 transmembrane domain

Gene Aliases

HGNC Name

ATPase H+ transporting accessory protein 1

HGNC Previous Symbols

ATP6S1; ATP6IP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_001183.6

p.E346K

c.1036G>A

Surrounding Variants

1 paper

NM_001183.6

p.E346*

c.1036G>T

1 paper

NM_001183.6

p.E346_V347del1

c.1038_1040delAGT

1 paper

NM_001183.6

p.L345R

c.1034T>G

1 paper

NM_001183.6

p.L345Fs

c.1033delinsGCAFs

1 paper

NM_001183.6

p.L345fs

c.1033_1034fs

1 paper

NM_001183.6

p.V347I

c.1039G>A

1 paper

NM_001183.6

p.R344H

c.1031G>A

1 paper

NM_001183.6

p.E343D

c.1029G>C

1 paper

NM_001183.6

p.E343D

c.1029G>T

1 paper

NM_001183.6

p.E343K

c.1027G>A

1 paper

NM_001183.6

p.M342I

c.1026G>C

2 papers

NM_001183.6

p.T341I

c.1022C>T