Varaico: Literature-Extracted Genetic Variants

SLC27A4

105 papers

RefSeq Summary

This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high leve...

Pfam Domains

AMP-bindingaa 80–450UCSCAMP-binding enzyme

AMP-binding_Caa 520–595UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

solute carrier family 27 member 4

HGNC Alias Symbols

FATP4; ACSVL4; FATP-4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005094.4

p.K148M

c.443A>T

Surrounding Variants

1 paper

NM_005094.4

p.L149P

c.446T>C

1 paper

NM_005094.4

p.V151M

c.451G>A

1 paper

NM_005094.4

p.N157D

c.469A>G

4 papers

NM_005094.4

p.R136H

c.407G>A

1 paper

NM_005094.4

p.D163_A174del12

c.487_521del36

10 papers

NM_005094.4

p.C168*

c.504C>A

1 paper

NM_005094.4

p.R175W

c.523C>T

1 paper

NM_005094.4

p.R121Q

c.362G>A

1 paper

NM_005094.4

p.R121W

c.361C>T

1 paper

NM_005094.4

p.A176T

c.526G>A

1 paper

NM_005094.4

p.A176D

c.527C>A

1 paper

NM_005094.4

p.L177P

c.530T>C