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

1–12 of 136 variants

10 papers

NM_024837.4

p.G395S

c.1183G>A

6 papers

NM_024837.4

p.R176C

c.526C>T

5 papers

NM_024837.4

p.L535F

c.1605G>T

3 papers

NM_024837.4

p.R20G

c.58C>G

3 papers

NM_024837.4

p.N225S

c.674A>G

3 papers

NM_024837.4

p.F436L

c.1306T>C

3 papers

NM_024837.4

p.F436L

c.1308C>G

3 papers

NM_024837.4

p.F436L

c.1308C>A

3 papers

NM_024837.4

p.H452N

c.1354C>A

3 papers

NM_024837.4

p.L535F

c.1605G>C

3 papers

NM_024837.4

p.R1059Q

c.3176G>A

2 papers

NM_024837.4

p.R32H

c.95G>A