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

5 papers

NM_001183.6

p.F456L

c.1368T>A

Surrounding Variants

3 papers

NM_001183.6

p.F456L

c.1368T>G

1 paper

NM_001183.6

p.D457G

c.1370A>G

3 papers

NM_001183.6

p.F456L

c.1366T>C

1 paper

NM_001183.6

p.R455P

c.1364G>C

2 papers

NM_001183.6

p.K460R

c.1379A>G

2 papers

NM_001183.6

p.K451_T452insFs

c.1353_1354insT

2 papers

NM_001183.6

p.P462P

c.1386C>T

1 paper

NM_001183.6

p.L450H

c.1349T>A

1 paper

NM_001183.6

p.S449insFs

c.1346_1347insA

1 paper

NM_001183.6

p.L448F

c.1342C>T

1 paper

NM_001183.6

p.M446_L448delFs

c.1337_1344del8

1 paper

NM_001183.6

p.H445Q

c.1335C>G