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

Selected Variant

1 paper

NM_012254.3

p.P588Q

c.1763C>A

Surrounding Variants

1 paper

NM_012254.3

p.G584D

c.1751G>A

1 paper

NM_012254.3

p.E560E

c.1680G>A

1 paper

NM_012254.3

p.E560Q

c.1678G>C

1 paper

NM_012254.3

p.W557R

c.1669T>C

1 paper

NM_012254.3

p.W557R

c.1669T>A

2 papers

NM_012254.3

p.R556Splc

c.1668-6T>C

1 paper

NM_012254.3

p.G595D

c.1784G>A

1 paper

NM_012254.3

p.A597T

c.1789G>A

1 paper

NM_012254.3

p.G609R

c.1825G>C

1 paper

NM_012254.3

p.G609R

c.1825G>A

2 papers

NM_012254.3

p.T625N

c.1874C>A

1 paper

NM_012254.3

p.T554T

c.1662C>T