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.D321D

c.963C>T

Surrounding Variants

1 paper

NM_005094.4

p.D321H

c.961G>C

2 papers

NM_005094.4

p.R318W

c.952C>T

3 papers

NM_005094.4

p.T329M

c.986C>T

2 papers

NM_005094.4

p.R311W

c.931C>T

1 paper

NM_005094.4

p.Q300Q

c.900G>A

4 papers

NM_005094.4

p.Q300R

c.899A>G

1 paper

NM_005094.4

p.T329_I330Splc

c.988-19A>G

3 papers

NM_005094.4

p.T329_I330Splc

c.988-2A>G

1 paper

NM_005094.4

p.R339C

c.1015C>T

1 paper

NM_005094.4

p.L341F

c.1021C>T

3 papers

NM_005094.4

p.N351S

c.1052A>G

1 paper

NM_005094.4

p.L359V

c.1075C>G