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.Q931P

c.2792A>C

Surrounding Variants

2 papers

NM_006095.2

p.K928R

c.2783A>G

1 paper

NM_006095.2

p.A962D

c.2885C>A

1 paper

NM_006095.2

p.F969L

c.2905T>C

1 paper

NM_006095.2

p.F969L

c.2907T>G

1 paper

NM_006095.2

p.F969L

c.2907T>A

1 paper

NM_006095.2

p.S975L

c.2924C>T

1 paper

NM_006095.2

p.S975W

c.2924C>G

1 paper

NM_006095.2

p.L978V

c.2932C>G

2 papers

NM_006095.2

p.Y852C

c.2555A>G

1 paper

NM_006095.2

p.L843S

c.2528T>C

1 paper

NM_006095.2

p.Q836_F837Splc

c.2508+2T>A

1 paper

NM_006095.2

p.S829F

c.2486C>T