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.D71Y

c.211G>T

Surrounding Variants

4 papers

NM_001183.6

p.S70N

c.209G>A

1 paper

NM_001183.6

p.S70T

c.209G>C

1 paper

NM_001183.6

p.S70fs

c.208_209fs

1 paper

NM_001183.6

p.L72fs

c.214_215fs

1 paper

NM_001183.6

p.Q73K

c.217C>A

1 paper

NM_001183.6

p.Q73*

c.217C>T

1 paper

NM_001183.6

p.Q73Q

c.219G>A

1 paper

NM_001183.6

p.I68T

c.203T>C

9 papers

NM_001183.6

p.L74P

c.221T>C

1 paper

NM_001183.6

p.L74L

c.222C>T

1 paper

NM_001183.6

p.H67Y

c.199C>T

1 paper

NM_001183.6

p.H67fs

c.199_200fs