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.E665A

c.1994A>C

Surrounding Variants

1 paper

NM_016529.6

p.R659Q

c.1976G>A

1 paper

NM_016529.6

p.D655N

c.1963G>A

1 paper

NM_016529.6

p.A649T

c.1945G>A

1 paper

NM_016529.6

p.Y646fs

c.1936_1937fs

1 paper

NM_016529.6

p.Y646_Q647delFs

c.1936_1939del4

1 paper

NM_016529.6

p.K644T

c.1931A>C

5 papers

NM_016529.6

p.Y639C

c.1916A>G

1 paper

NM_016529.6

p.Y639F

c.1916A>T

1 paper

NM_016529.6

p.L634H

c.1901T>A

1 paper

NM_016529.6

p.D633A

c.1898A>C

1 paper

NM_016529.6

p.C628Y

c.1883G>A

1 paper

NM_016529.6

p.T626A

c.1876A>G