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

1–12 of 264 variants

17 papers

NM_016529.6

p.I376M

c.1128C>G

13 papers

NM_016529.6

p.K429N

c.1287G>T

12 papers

NM_016529.6

p.K429N

c.1287G>C

12 papers

NM_016529.6

p.A544P

c.1630G>C

12 papers

NM_016529.6

p.R625W

c.1873C>T

9 papers

NM_016529.6

p.N917D

c.2749A>G

8 papers

NM_016529.6

p.K429M

c.1286A>T

8 papers

NM_016529.6

p.R581*

c.1741C>T

8 papers

NM_016529.6

p.W702R

c.2104T>C

7 papers

NM_016529.6

p.W702R

c.2104T>A

6 papers

NM_016529.6

p.G585V

c.1754G>T

6 papers

NM_016529.6

p.R586*

c.1756C>T