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.L84Q

c.251T>A

Surrounding Variants

1 paper

NM_001183.6

p.L84P

c.251T>C

2 papers

NM_001183.6

p.L84M

c.250C>A

1 paper

NM_001183.6

p.L84L

c.252G>A

1 paper

NM_001183.6

p.E83K

c.247G>A

1 paper

NM_001183.6

p.P86T

c.256C>A

1 paper

NM_001183.6

p.L82Q

c.245T>A

1 paper

NM_001183.6

p.L82P

c.245T>C

1 paper

NM_001183.6

p.L82M

c.244C>A

1 paper

NM_001183.6

p.L82fs

c.244_245fs

1 paper

NM_001183.6

p.R87fs

c.259_260fs

1 paper

NM_001183.6

p.A81G

c.242C>G

1 paper

NM_001183.6

p.R87K

c.260G>A