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

2 papers

NM_006095.2

p.I108M

c.324T>G

Surrounding Variants

1 paper

NM_006095.2

p.K115E

c.343A>G

1 paper

NM_006095.2

p.V93V

c.279G>A

1 paper

NM_006095.2

p.Q88_Q89Splc

c.265-2A>G

1 paper

NM_006095.2

p.R123*

c.367C>T

1 paper

NM_006095.2

p.N131D

c.391A>G

1 paper

NM_006095.2

p.T135M

c.404C>T