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.N187S

c.560A>G

Surrounding Variants

2 papers

NM_006095.2

p.E191Q

c.571G>C

1 paper

NM_006095.2

p.Q198_G199Splc

c.594+1G>T

1 paper

NM_006095.2

p.D205A

c.614A>C

1 paper

NM_006095.2

p.V209I

c.625G>A

1 paper

NM_006095.2

p.D238H

c.712G>C

1 paper

NM_006095.2

p.G239*

c.715G>T

1 paper

NM_006095.2

p.G239V

c.716G>T

1 paper

NM_006095.2

p.S173Y

c.518C>A

1 paper

NM_006095.2

p.V243I

c.727G>A

1 paper

NM_006095.2

p.D248Y

c.742G>T

1 paper

NM_006095.2

p.L252R

c.755T>G

2 papers

NM_006095.2

p.R253*

c.757C>T