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.A419_F421del3

c.1255_1262del9

Surrounding Variants

1 paper

NM_001183.6

p.A419P

c.1255G>C

2 papers

NM_001183.6

p.C418G

c.1252T>G

1 paper

NM_001183.6

p.D417V

c.1250A>T

1 paper

NM_001183.6

p.F422fs

c.1264_1265fs

1 paper

NM_001183.6

p.A415T

c.1243G>A

1 paper

NM_001183.6

p.Y414*

c.1242C>A

1 paper

NM_001183.6

p.Y414*

c.1242C>G

1 paper

NM_001183.6

p.Y414fs

c.1240_1241fs

1 paper

NM_001183.6

p.G425fs

c.1273_1274fs

1 paper

NM_001183.6

p.I426_W427insFs

c.1278_1279ins4

1 paper

NM_001183.6

p.W427fs

c.1279_1280fs

2 papers

NM_001183.6

p.W427*

c.1280G>A