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

3 papers

NM_024837.4

p.R20G

c.58C>G

Surrounding Variants

1 paper

NM_024837.4

p.Y22H

c.64T>C

1 paper

NM_024837.4

p.R13Q

c.38G>A

1 paper

NM_024837.4

p.A29_D30Splc

c.87+87T>G