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

2 papers

NM_012254.3

p.T625N

c.1874C>A

Surrounding Variants

1 paper

NM_012254.3

p.G609R

c.1825G>C

1 paper

NM_012254.3

p.G609R

c.1825G>A

1 paper

NM_012254.3

p.A597T

c.1789G>A

1 paper

NM_012254.3

p.G595D

c.1784G>A

1 paper

NM_012254.3

p.K642R

c.1925A>G

1 paper

NM_012254.3

p.R647L

c.1940G>T

1 paper

NM_012254.3

p.R647Q

c.1940G>A

1 paper

NM_012254.3

p.G652R

c.1954G>C

1 paper

NM_012254.3

p.R668Q

c.2003G>A

1 paper

NM_012254.3

p.A669T

c.2005G>A

1 paper

NM_012254.3

p.A669G

c.2006C>G

1 paper

NM_012254.3

p.P588Q

c.1763C>A