Varaico: Literature-Extracted Genetic Variants

ATP8A1

92 papers

RefSeq Summary

The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-t...

Pfam Domains

PhoLip_ATPase_Naa 39–102UCSCPhospholipid-translocating ATPase N-terminal

E1-E2_ATPaseaa 129–278UCSCP-type ATPase actuator domain

Cation_ATPaseaa 477–666UCSCP-type ATPase, cytoplasmic domain N

PhoLip_ATPase_Caa 827–1079UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 8A1

HGNC Alias Symbol

ATPIA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006095.2

p.Q468K

c.1402C>A

Surrounding Variants

1 paper

NM_006095.2

p.D460_S462delFs

c.1379_1385del7

1 paper

NM_006095.2

p.D454G

c.1361A>G

1 paper

NM_006095.2

p.D454N

c.1360G>A

1 paper

NM_006095.2

p.Q448H

c.1344G>T

1 paper

NM_006095.2

p.Q448H

c.1344G>C

1 paper

NM_006095.2

p.P475fs

c.1423_1424fs

1 paper

NM_006095.2

p.P475_I477delFs

c.1424_1430del7

1 paper

NM_006095.2

p.D507Splc

c.1520-1G>A

1 paper

NM_006095.2

p.S534_L535Splc

c.1602+2T>C

1 paper

NM_006095.2

p.Y541H

c.1621T>C

1 paper

NM_006095.2

p.E542Q

c.1624G>C

2 papers

NM_006095.2

p.N545S

c.1634A>G