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.P166T

c.496C>A

Surrounding Variants

1 paper

NM_012254.3

p.S168R

c.504C>A

1 paper

NM_012254.3

p.A171P

c.511G>C

1 paper

NM_012254.3

p.A171A

c.513C>A

1 paper

NM_012254.3

p.G172R

c.514G>C

1 paper

NM_012254.3

p.G172R

c.514G>A

1 paper

NM_012254.3

p.E173G

c.518A>G

1 paper

NM_012254.3

p.L148P

c.443T>C

1 paper

NM_012254.3

p.V185I

c.553G>A

1 paper

NM_012254.3

p.G193G

c.579G>A

1 paper

NM_012254.3

p.L132I

c.394C>A

1 paper

NM_012254.3

p.E121*

c.361G>T

2 papers

NM_012254.3

p.A214V

c.641C>T