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.A219T

c.655G>A

Surrounding Variants

1 paper

NM_001183.6

p.A220V

c.659C>T

5 papers

NM_001183.6

p.Y217N

c.649T>A

1 paper

NM_001183.6

p.L221H

c.662T>A

2 papers

NM_001183.6

p.T222A

c.664A>G

1 paper

NM_001183.6

p.P216A

c.646C>G

1 paper

NM_001183.6

p.V215V

c.645C>T

1 paper

NM_001183.6

p.A223S

c.667G>T

1 paper

NM_001183.6

p.V224D

c.671T>A

2 papers

NM_001183.6

p.R225C

c.673C>T

1 paper

NM_001183.6

p.R225H

c.674G>A

1 paper

NM_001183.6

p.R225R

c.675C>G

1 paper

NM_001183.6

p.P226A

c.676C>G