Varaico: Literature-Extracted Genetic Variants

SLC27A5

115 papers

RefSeq Summary

The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in ...

Pfam Domains

AMP-bindingaa 120–480UCSCAMP-binding enzyme

AMP-binding_Caa 566–642UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

solute carrier family 27 member 5

HGNC Alias Symbols

FATP5; VLACSR; VLCS-H2; VLCSH2; FACVL3; FLJ22987; ACSVL6; ACSB

Papers

RefSeq ID

Protein change

DNA change

1–12 of 107 variants

6 papers

NM_012254.3

p.H338Y

c.1012C>T

5 papers

NM_012254.3

p.M50T

c.149T>C

4 papers

NM_012254.3

p.V442I

c.1324G>A

4 papers

NM_012254.3

p.T554I

c.1661C>T

2 papers

NM_012254.3

p.R53W

c.157C>T

2 papers

NM_012254.3

p.P58H

c.173C>A

2 papers

NM_012254.3

p.A214V

c.641C>T

2 papers

NM_012254.3

p.S288C

c.862A>T

2 papers

NM_012254.3

p.R459_M460Splc

c.1377+10C>T

2 papers

NM_012254.3

p.M539T

c.1616T>C

2 papers

NM_012254.3

p.R556Splc

c.1668-6T>C

2 papers

NM_012254.3

p.T625N

c.1874C>A