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

1–12 of 628 variants

14 papers

NM_001183.6

p.E346K

c.1036G>A

11 papers

NM_001183.6

p.G204R

c.610G>A

9 papers

NM_001183.6

p.L74P

c.221T>C

9 papers

NM_001183.6

p.G204R

c.610G>C

9 papers

NM_001183.6

p.Y313C

c.938A>G

9 papers

NM_001183.6

p.M428I

c.1284G>A

8 papers

NM_001183.6

p.M428I

c.1284G>C

8 papers

NM_001183.6

p.M428I

c.1284G>T

5 papers

NM_001183.6

p.L144P

c.431T>C

5 papers

NM_001183.6

p.L181R

c.542T>G

5 papers

NM_001183.6

p.Y217N

c.649T>A

5 papers

NM_001183.6

p.F456L

c.1368T>A