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.T184delFs

c.550delA

Surrounding Variants

1 paper

NM_001183.6

p.Y183*

c.549C>A

1 paper

NM_001183.6

p.Y183Y

c.549C>T

2 papers

NM_001183.6

p.T184A

c.550A>G

1 paper

NM_001183.6

p.P182P

c.546C>A

1 paper

NM_001183.6

p.P182P

c.546C>T

1 paper

NM_001183.6

p.P182H

c.545C>A

1 paper

NM_001183.6

p.A185P

c.553G>C

1 paper

NM_001183.6

p.A185S

c.553G>T

1 paper

NM_001183.6

p.P182fs

c.544_545fs

1 paper

NM_001183.6

p.S186G

c.556A>G

5 papers

NM_001183.6

p.L181R

c.542T>G

1 paper

NM_001183.6

p.L181delFs

c.543delG