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

2 papers

NM_016529.6

p.Y370*

c.1110C>G

Surrounding Variants

2 papers

NM_016529.6

p.Y370*

c.1110C>A

1 paper

NM_016529.6

p.I374T

c.1121T>C

1 paper

NM_016529.6

p.F366L

c.1096T>C

17 papers

NM_016529.6

p.I376M

c.1128C>G

1 paper

NM_016529.6

p.K386K

c.1158G>A

1 paper

NM_016529.6

p.D353Splc

c.1058-2A>G

4 papers

NM_016529.6

p.W395_D396Splc

c.1185+5G>A

1 paper

NM_016529.6

p.D405N

c.1213G>A

1 paper

NM_016529.6

p.A410D

c.1229C>A

1 paper

NM_016529.6

p.S413L

c.1238C>T

1 paper

NM_016529.6

p.D353Splc

c.1057+5G>C

1 paper

NM_016529.6

p.Y337F

c.1010A>T