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.V407L

c.1219G>C

Surrounding Variants

1 paper

NM_001183.6

p.F405L

c.1215C>A

1 paper

NM_001183.6

p.F405L

c.1215C>G

1 paper

NM_001183.6

p.F405S

c.1214T>C

1 paper

NM_001183.6

p.F405_V407delFs

c.1215_1219del5

1 paper

NM_001183.6

p.G409R

c.1225G>A

1 paper

NM_001183.6

p.F405L

c.1213T>C

1 paper

NM_001183.6

p.E410K

c.1228G>A

1 paper

NM_001183.6

p.Q403Q

c.1209G>A

1 paper

NM_001183.6

p.Q403*

c.1207C>T

1 paper

NM_001183.6

p.Q403fs

c.1207_1208fs

1 paper

NM_001183.6

p.Y414fs

c.1240_1241fs

1 paper

NM_001183.6

p.Y414*

c.1242C>A