Varaico: Literature-Extracted Genetic Variants

ATP8A2

290 papers

RefSeq Summary

The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards fr...

Pfam Domains

PhoLip_ATPase_Naa 58–121UCSCPhospholipid-translocating ATPase N-terminal

E1-E2_ATPaseaa 148–297UCSCP-type ATPase actuator domain

Cation_ATPaseaa 496–686UCSCP-type ATPase, cytoplasmic domain N

PhoLip_ATPase_Caa 847–894UCSCPhospholipid-translocating P-type ATPase C-terminal

PhoLip_ATPase_Caa 847–1099UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 8A2

HGNC Alias Symbols

ATPIB; ML-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016529.6

p.Y337F

c.1010A>T

Surrounding Variants

1 paper

NM_016529.6

p.D353Splc

c.1057+5G>C

1 paper

NM_016529.6

p.L318Q

c.953T>A

1 paper

NM_016529.6

p.V315L

c.943G>C

1 paper

NM_016529.6

p.V315L

c.943G>T

1 paper

NM_016529.6

p.R306K

c.917G>A

1 paper

NM_016529.6

p.K305N

c.915G>C

1 paper

NM_016529.6

p.K305N

c.915G>T

1 paper

NM_016529.6

p.K305T

c.914A>C

1 paper

NM_016529.6

p.P303P

c.909T>A

1 paper

NM_016529.6

p.A302A

c.906G>A

1 paper

NM_016529.6

p.T300T

c.900C>A

1 paper

NM_016529.6

p.T300insFs

c.899dupC