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.D79G

c.236A>G

Surrounding Variants

2 papers

NM_001183.6

p.D79N

c.235G>A

1 paper

NM_001183.6

p.D79E

c.237T>A

1 paper

NM_001183.6

p.D79D

c.237T>C

1 paper

NM_001183.6

p.P80fs

c.238_239fs

2 papers

NM_001183.6

p.P80R

c.239C>G

1 paper

NM_001183.6

p.P80P

c.240C>T

2 papers

NM_001183.6

p.A81S

c.241G>T

1 paper

NM_001183.6

p.A81G

c.242C>G

1 paper

NM_001183.6

p.L82M

c.244C>A

1 paper

NM_001183.6

p.L82fs

c.244_245fs

3 papers

NM_001183.6

p.T76I

c.227C>T

2 papers

NM_001183.6

p.Y77del1

c.229_230delTAC