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

2 papers

NM_024837.4

p.R32H

c.95G>A

Surrounding Variants

1 paper

NM_024837.4

p.D30D

c.90T>C

2 papers

NM_024837.4

p.Y38*

c.114T>G

2 papers

NM_024837.4

p.Y38*

c.114T>A

1 paper

NM_024837.4

p.N47K

c.141T>A

1 paper

NM_024837.4

p.A56S

c.166G>T

1 paper

NM_024837.4

p.L68R

c.203T>G

1 paper

NM_024837.4

p.S73F

c.218C>T

1 paper

NM_024837.4

p.V87E

c.260T>A

1 paper

NM_024837.4

p.D99A

c.296A>C

1 paper

NM_024837.4

p.R102C

c.304C>T

1 paper

NM_024837.4

p.I118V

c.352A>G