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

1–12 of 112 variants

3 papers

NM_006095.2

p.L1121S

c.3362T>C

2 papers

NM_006095.2

p.I108M

c.324T>G

2 papers

NM_006095.2

p.N187S

c.560A>G

2 papers

NM_006095.2

p.E191Q

c.571G>C

2 papers

NM_006095.2

p.R253*

c.757C>T

2 papers

NM_006095.2

p.R392P

c.1175G>C

2 papers

NM_006095.2

p.N545S

c.1634A>G

2 papers

NM_006095.2

p.A658V

c.1973C>T

2 papers

NM_006095.2

p.D763_L764del1

c.2288_2290delAGT

2 papers

NM_006095.2

p.P778del1

c.2332_2333delAGG

2 papers

NM_006095.2

p.Y852C

c.2555A>G

2 papers

NM_006095.2

p.K928R

c.2783A>G