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.D200Splc

c.599-1G>A

Surrounding Variants

1 paper

NM_001183.6

p.D200V

c.599A>T

1 paper

NM_001183.6

p.D200D

c.600T>C

1 paper

NM_001183.6

p.V202delFs

c.604delG

1 paper

NM_001183.6

p.V202L

c.604G>C

1 paper

NM_001183.6

p.V202delFs

c.606delC

11 papers

NM_001183.6

p.G204R

c.610G>A

9 papers

NM_001183.6

p.G204R

c.610G>C

1 paper

NM_001183.6

p.L207L

c.621G>C

1 paper

NM_001183.6

p.S208C

c.622A>T

1 paper

NM_001183.6

p.S208insFs

c.623_624ins4

1 paper

NM_001183.6

p.L210delFs

c.628delC

1 paper

NM_001183.6

p.L210L

c.630C>A