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.P495fs

c.1483_1484fs

Surrounding Variants

1 paper

NM_016529.6

p.P492A

c.1474C>G

1 paper

NM_016529.6

p.T493_P495insFs

c.1477_1483dup7

2 papers

NM_016529.6

p.V506M

c.1516G>A

1 paper

NM_016529.6

p.T509M

c.1526C>T

2 papers

NM_016529.6

p.D527Splc

c.1580-18C>G

1 paper

NM_016529.6

p.D527Splc

c.1580-3C>G

1 paper

NM_016529.6

p.D527fs

c.1579_1580fs

1 paper

NM_016529.6

p.K536R

c.1607A>G

2 papers

NM_016529.6

p.L538P

c.1613T>C

12 papers

NM_016529.6

p.A544P

c.1630G>C

1 paper

NM_016529.6

p.A554del1

c.1660_1661delGCG

1 paper

NM_016529.6

p.M555I

c.1665G>A