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

1 paper

NM_001183.6

p.K168N

c.504G>T

Surrounding Variants

1 paper

NM_001183.6

p.K168N

c.504G>C

1 paper

NM_001183.6

p.L167L

c.501G>A

1 paper

NM_001183.6

p.N170S

c.509A>G

1 paper

NM_001183.6

p.L167V

c.499C>G

1 paper

NM_001183.6

p.N170K

c.510T>G

1 paper

NM_001183.6

p.E166A

c.497A>C

1 paper

NM_001183.6

p.E166V

c.497A>T

1 paper

NM_001183.6

p.A171S

c.511G>T

1 paper

NM_001183.6

p.R165Q

c.494G>A

1 paper

NM_001183.6

p.R165insFs

c.493_494insG

1 paper

NM_001183.6

p.S172S

c.516C>T

1 paper

NM_001183.6

p.L173F

c.517C>T