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.G294G

c.882A>T

Surrounding Variants

1 paper

NM_024837.4

p.F309F

c.927C>T

1 paper

NM_024837.4

p.G323R

c.967G>C

1 paper

NM_024837.4

p.G323R

c.967G>A

2 papers

NM_024837.4

p.F327S

c.980T>C

1 paper

NM_024837.4

p.W328S

c.983G>C

1 paper

NM_024837.4

p.W328*

c.983G>A

1 paper

NM_024837.4

p.W328*

c.984G>A

1 paper

NM_024837.4

p.S345N

c.1034G>A

1 paper

NM_024837.4

p.L276R

c.827T>G

1 paper

NM_024837.4

p.T275I

c.824C>T

1 paper

NM_024837.4

p.R271*

c.811A>T

1 paper

NM_024837.4

p.K254*

c.760A>T