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.V141D

c.422T>A

Surrounding Variants

1 paper

NM_001183.6

p.S142_T143del2

c.424_428del6

2 papers

NM_001183.6

p.V141I

c.421G>A

2 papers

NM_001183.6

p.S142G

c.424A>G

1 paper

NM_001183.6

p.S142N

c.425G>A

1 paper

NM_001183.6

p.S142T

c.425G>C

1 paper

NM_001183.6

p.A140T

c.418G>A

1 paper

NM_001183.6

p.A140insFs

c.418_419insG

1 paper

NM_001183.6

p.A140_V141del1

c.419_421delCAG

1 paper

NM_001183.6

p.W138*

c.414G>A

2 papers

NM_001183.6

p.W138*

c.413G>A

5 papers

NM_001183.6

p.L144P

c.431T>C

1 paper

NM_001183.6

p.W138R

c.412T>A