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.A473V

c.1418C>T

Surrounding Variants

1 paper

NM_012254.3

p.A474A

c.1422G>A

1 paper

NM_012254.3

p.V477E

c.1430T>A

1 paper

NM_012254.3

p.Q481K

c.1441C>A

1 paper

NM_012254.3

p.F464L

c.1392T>G

1 paper

NM_012254.3

p.F464L

c.1392T>A

1 paper

NM_012254.3

p.F464L

c.1390T>C

1 paper

NM_012254.3

p.G488E

c.1463G>A

2 papers

NM_012254.3

p.R459_M460Splc

c.1377+10C>T

1 paper

NM_012254.3

p.R459*

c.1375C>T

1 paper

NM_012254.3

p.L458I

c.1372C>A

1 paper

NM_012254.3

p.G449A

c.1346G>C

1 paper

NM_012254.3

p.V442A

c.1325T>C