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.G696Splc

c.2087-3C>A

Surrounding Variants

1 paper

NM_006095.2

p.G696Splc

c.2087-17T>C

1 paper

NM_006095.2

p.A677T

c.2029G>A

1 paper

NM_006095.2

p.T673M

c.2018C>T

1 paper

NM_006095.2

p.E669K

c.2005G>A

2 papers

NM_006095.2

p.A658V

c.1973C>T

1 paper

NM_006095.2

p.K649_N650Splc

c.1948-1642A>G