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.S1061F

c.3182C>T

Surrounding Variants

3 papers

NM_024837.4

p.R1059Q

c.3176G>A

1 paper

NM_024837.4

p.R1119W

c.3355C>T

1 paper

NM_024837.4

p.N1147I

c.3440A>T

1 paper

NM_024837.4

p.N1147fs

c.3439_3440fs

1 paper

NM_024837.4

p.N1147insFs

c.3440dupA

1 paper

NM_024837.4

p.M1148R

c.3443T>G

1 paper

NM_024837.4

p.G1158A

c.3473G>C

1 paper

NM_024837.4

p.L1159L

c.3477G>A

1 paper

NM_024837.4

p.S1168R

c.3502A>C

1 paper

NM_024837.4

p.S1168R

c.3504C>G

1 paper

NM_024837.4

p.S1168R

c.3504C>A

1 paper

NM_024837.4

p.T1180I

c.3539C>T