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

3 papers

NM_006095.2

p.L1121S

c.3362T>C

Surrounding Variants

1 paper

NM_006095.2

p.N1117K

c.3351C>G

1 paper

NM_006095.2

p.N1117K

c.3351C>A

1 paper

NM_006095.2

p.N1117S

c.3350A>G

1 paper

NM_006095.2

p.E1149K

c.3445G>A

1 paper

NM_006095.2

p.Q1159K

c.3475C>A

1 paper

NM_006095.2

p.Q1092P

c.3275A>C

1 paper

NM_006095.2

p.E1086K

c.3256G>A

1 paper

NM_006095.2

p.Q1085L

c.3254A>T

1 paper

NM_006095.2

p.K1070M

c.3209A>T

1 paper

NM_006095.2

p.W1052*

c.3156G>A

1 paper

NM_006095.2

p.W1052*

c.3155G>A