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.N295T

c.884A>C

Surrounding Variants

1 paper

NM_006095.2

p.F302L

c.904T>C

1 paper

NM_006095.2

p.F302L

c.906T>G

1 paper

NM_006095.2

p.F302L

c.906T>A

1 paper

NM_006095.2

p.I304V

c.910A>G

1 paper

NM_006095.2

p.M308L

c.922A>T

1 paper

NM_006095.2

p.M308L

c.922A>C

1 paper

NM_006095.2

p.I266M

c.798A>G

1 paper

NM_006095.2

p.W262*

c.786G>A

1 paper

NM_006095.2

p.W262*

c.785G>A

1 paper

NM_006095.2

p.A255delFs

c.763_764delGC

1 paper

NM_006095.2

p.G254R

c.760G>C

1 paper

NM_006095.2

p.G254R

c.760G>A