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.K429M

c.1286A>T

Surrounding Variants

1 paper

NM_016529.6

p.K429R

c.1286A>G

1 paper

NM_016529.6

p.K429*

c.1285A>T

12 papers

NM_016529.6

p.K429N

c.1287G>C

13 papers

NM_016529.6

p.K429N

c.1287G>T

2 papers

NM_016529.6

p.K429del1

c.1285_1286delAAG

5 papers

NM_016529.6

p.M438V

c.1312A>G

1 paper

NM_016529.6

p.M438T

c.1313T>C

5 papers

NM_016529.6

p.G447R

c.1339G>A

5 papers

NM_016529.6

p.G447R

c.1339G>C

3 papers

NM_016529.6

p.G447E

c.1340G>A

3 papers

NM_016529.6

p.G447A

c.1340G>C

1 paper

NM_016529.6

p.G451Splc

c.1352+5G>A