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

2 papers

NM_001183.6

p.G429G

c.1287G>A

Surrounding Variants

1 paper

NM_001183.6

p.L430M

c.1288C>A

1 paper

NM_001183.6

p.L430fs

c.1288_1289fs

2 papers

NM_001183.6

p.G429E

c.1286G>A

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

1 paper

NM_001183.6

p.L431P

c.1292T>C

1 paper

NM_001183.6

p.L431L

c.1293C>T

2 papers

NM_001183.6

p.W427*

c.1281G>A

1 paper

NM_001183.6

p.T432A

c.1294A>G

2 papers

NM_001183.6

p.W427*

c.1280G>A

1 paper

NM_001183.6

p.W427fs

c.1279_1280fs