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.R586Q

c.1757G>A

Surrounding Variants

6 papers

NM_016529.6

p.R586*

c.1756C>T

2 papers

NM_016529.6

p.L587insFs

c.1761dupT

6 papers

NM_016529.6

p.G585V

c.1754G>T

3 papers

NM_016529.6

p.R588fs

c.1762_1763fs

5 papers

NM_016529.6

p.R588W

c.1762C>T

1 paper

NM_016529.6

p.R588fs

c.1762_1763fs

1 paper

NM_016529.6

p.R581Q

c.1742G>A

1 paper

NM_016529.6

p.R581G

c.1741C>G

8 papers

NM_016529.6

p.R581*

c.1741C>T

1 paper

NM_016529.6

p.I579T

c.1736T>C

4 papers

NM_016529.6

p.N596delFs

c.1787delA

2 papers

NM_016529.6

p.N596fs

c.1786_1787fs