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

6 papers

NM_024837.4

p.R176C

c.526C>T

Surrounding Variants

1 paper

NM_024837.4

p.H177L

c.530A>T

1 paper

NM_024837.4

p.N172D

c.514A>G

1 paper

NM_024837.4

p.G194R

c.580G>C

1 paper

NM_024837.4

p.G194R

c.580G>A

1 paper

NM_024837.4

p.T164I

c.491C>T

1 paper

NM_024837.4

p.H157Y

c.469C>T

1 paper

NM_024837.4

p.S153N

c.458G>A

1 paper

NM_024837.4

p.K221delFs

c.662delT

3 papers

NM_024837.4

p.N225S

c.674A>G

1 paper

NM_024837.4

p.N238I

c.713A>T

1 paper

NM_024837.4

p.T239A

c.715A>G

1 paper

NM_024837.4

p.W241*

c.722G>A