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.H67fs

c.199_200fs

Surrounding Variants

1 paper

NM_001183.6

p.H67Y

c.199C>T

1 paper

NM_001183.6

p.G66_H67insFs

c.198_199insG

1 paper

NM_001183.6

p.G66G

c.198C>G

1 paper

NM_001183.6

p.G66A

c.197G>C

3 papers

NM_001183.6

p.G66S

c.196G>A

1 paper

NM_001183.6

p.G66C

c.196G>T

1 paper

NM_001183.6

p.E65D

c.195A>T

1 paper

NM_001183.6

p.I68T

c.203T>C

2 papers

NM_001183.6

p.E65K

c.193G>A

1 paper

NM_001183.6

p.H64_E65insFs

c.192_193insG

1 paper

NM_001183.6

p.E65delFs

c.193delG

1 paper

NM_001183.6

p.H64L

c.191A>T