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.P59H

c.176C>A

Surrounding Variants

1 paper

NM_001183.6

p.P59L

c.176C>T

1 paper

NM_001183.6

p.A58A

c.174T>A

1 paper

NM_001183.6

p.A58A

c.174T>C

1 paper

NM_001183.6

p.A60V

c.179C>T

2 papers

NM_001183.6

p.A58T

c.172G>A

1 paper

NM_001183.6

p.A60A

c.180G>A

2 papers

NM_001183.6

p.A58P

c.172G>C

2 papers

NM_001183.6

p.W57*

c.171G>A

1 paper

NM_001183.6

p.W57C

c.171G>C

1 paper

NM_001183.6

p.W57*

c.170G>A

1 paper

NM_001183.6

p.L56L

c.168G>A

1 paper

NM_001183.6

p.T63A

c.187A>G