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.T146delFs

c.437delC

Surrounding Variants

1 paper

NM_001183.6

p.T146S

c.436A>T

1 paper

NM_001183.6

p.T145I

c.434C>T

1 paper

NM_001183.6

p.Y147N

c.439T>A

1 paper

NM_001183.6

p.Y147*

c.441C>A

1 paper

NM_001183.6

p.Y147*

c.441C>G

1 paper

NM_001183.6

p.Y147Y

c.441C>T

5 papers

NM_001183.6

p.L144P

c.431T>C

3 papers

NM_001183.6

p.L148P

c.443T>C

1 paper

NM_001183.6

p.S142N

c.425G>A

1 paper

NM_001183.6

p.Q149Q

c.447G>A

1 paper

NM_001183.6

p.S142T

c.425G>C

2 papers

NM_001183.6

p.S142G

c.424A>G