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.L269P

c.806T>C

Surrounding Variants

1 paper

NM_005094.4

p.A268T

c.802G>A

1 paper

NM_005094.4

p.R275C

c.823C>T

1 paper

NM_005094.4

p.R275R

c.825C>T

1 paper

NM_005094.4

p.P287P

c.861C>A

2 papers

NM_005094.4

p.R262Splc

c.785+7G>A

1 paper

NM_005094.4

p.G248S

c.742G>A

3 papers

NM_005094.4

p.S247P

c.739T>C

1 paper

NM_005094.4

p.S247A

c.739T>G

2 papers

NM_005094.4

p.D239Splc

c.716-1G>A

1 paper

NM_005094.4

p.D239Splc

c.716-15G>A

1 paper

NM_005094.4

p.D219E

c.657C>A

1 paper

NM_005094.4

p.D219E

c.657C>G