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.R315_L316insFs

c.945_946insA

Surrounding Variants

1 paper

NM_001183.6

p.R315R

c.945A>G

1 paper

NM_001183.6

p.R315*

c.943C>T

1 paper

NM_001183.6

p.Y313Y

c.939T>C

1 paper

NM_001183.6

p.F317fs

c.949_950fs

9 papers

NM_001183.6

p.Y313C

c.938A>G

1 paper

NM_001183.6

p.F317S

c.950T>C

1 paper

NM_001183.6

p.T312I

c.935C>T

1 paper

NM_001183.6

p.T312S

c.934A>T

1 paper

NM_001183.6

p.T319_T320delFs

c.956_960del5

3 papers

NM_001183.6

p.L311Q

c.932T>A

1 paper

NM_001183.6

p.L311P

c.932T>C

1 paper

NM_001183.6

p.S310L

c.929C>T