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

1–12 of 119 variants

12 papers

NM_005094.4

p.G209S

c.625G>A

10 papers

NM_005094.4

p.C168*

c.504C>A

5 papers

NM_005094.4

p.A92T

c.274G>A

4 papers

NM_005094.4

p.R136H

c.407G>A

4 papers

NM_005094.4

p.Q300R

c.899A>G

4 papers

NM_005094.4

p.R374C

c.1120C>T

4 papers

NM_005094.4

p.R417Q

c.1250G>A

4 papers

NM_005094.4

p.V477D

c.1430T>A

3 papers

NM_005094.4

p.S247P

c.739T>C

3 papers

NM_005094.4

p.T329M

c.986C>T

3 papers

NM_005094.4

p.T329_I330Splc

c.988-2A>G

3 papers

NM_005094.4

p.N351S

c.1052A>G