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.F436L

c.1308C>G

Surrounding Variants

3 papers

NM_024837.4

p.F436L

c.1308C>A

3 papers

NM_024837.4

p.F436L

c.1306T>C

3 papers

NM_024837.4

p.H452N

c.1354C>A

1 paper

NM_024837.4

p.R469T

c.1406G>C

1 paper

NM_024837.4

p.A502A

c.1506C>T

1 paper

NM_024837.4

p.R504G

c.1510A>G

1 paper

NM_024837.4

p.G507R

c.1519G>C

1 paper

NM_024837.4

p.G507R

c.1519G>A

1 paper

NM_024837.4

p.G507V

c.1520G>T

1 paper

NM_024837.4

p.R513Q

c.1538G>A

1 paper

NM_024837.4

p.T517I

c.1550C>T

5 papers

NM_024837.4

p.L535F

c.1605G>T