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.N122S

c.365A>G

Surrounding Variants

1 paper

NM_001183.6

p.L124R

c.371T>G

4 papers

NM_001183.6

p.L124insFs

c.371_372insA

1 paper

NM_001183.6

p.L124L

c.372G>A

1 paper

NM_001183.6

p.D125_L126insFs

c.375_376insCC

1 paper

NM_001183.6

p.D125A

c.374A>C

1 paper

NM_001183.6

p.L126Q

c.377T>A

1 paper

NM_001183.6

p.L126P

c.377T>C

1 paper

NM_001183.6

p.A127delFs

c.379delG

1 paper

NM_001183.6

p.A127T

c.379G>A

1 paper

NM_001183.6

p.P128T

c.382C>A

1 paper

NM_001183.6

p.P128P

c.384C>T

1 paper

NM_001183.6

p.S129T

c.385T>A