Varaico: Literature-Extracted Genetic Variants

ATP8B4

116 papers

RefSeq Summary

This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing re...

Pfam Domains

PhoLip_ATPase_Naa 15–81UCSCPhospholipid-translocating ATPase N-terminal

Cation_ATPaseaa 463–655UCSCP-type ATPase, cytoplasmic domain N

PhoLip_ATPase_Caa 841–1095UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 8B4 (putative)

HGNC Alias Symbols

ATPIM; KIAA1939

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024837.4

p.T396A

c.1186A>G

Surrounding Variants

10 papers

NM_024837.4

p.G395S

c.1183G>A

1 paper

NM_024837.4

p.Q399E

c.1195C>G

1 paper

NM_024837.4

p.S391S

c.1173C>T

1 paper

NM_024837.4

p.S391S

c.1173C>A

1 paper

NM_024837.4

p.E381G

c.1142A>G

1 paper

NM_024837.4

p.N380S

c.1139A>G

2 papers

NM_024837.4

p.T378M

c.1133C>T

2 papers

NM_024837.4

p.P371H

c.1112C>A

1 paper

NM_024837.4

p.R367Q

c.1100G>A

1 paper

NM_024837.4

p.R361Q

c.1082G>A

1 paper

NM_024837.4

p.R361R

c.1081C>A

1 paper

NM_024837.4

p.R350H

c.1049G>A