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

8 papers

NM_016529.6

p.W702R

c.2104T>C

Surrounding Variants

7 papers

NM_016529.6

p.W702R

c.2104T>A

5 papers

NM_016529.6

p.I713T

c.2138T>C

1 paper

NM_016529.6

p.G716W

c.2146G>T

1 paper

NM_016529.6

p.V687F

c.2059G>T

1 paper

NM_016529.6

p.D681D

c.2043T>C

1 paper

NM_016529.6

p.A678G

c.2033C>G

1 paper

NM_016529.6

p.A678V

c.2033C>T

1 paper

NM_016529.6

p.L674H

c.2021T>A

2 papers

NM_016529.6

p.L673P

c.2018T>C

1 paper

NM_016529.6

p.K669_N670Splc

c.2008-4G>C

1 paper

NM_016529.6

p.E665A

c.1994A>C

1 paper

NM_016529.6

p.R659Q

c.1976G>A