Varaico: Literature-Extracted Genetic Variants

Gene:SLC27A2
Variant:p.K48Q

SLC27A2

79 papers

RefSeq Summary

The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all is...

Pfam Domains

AMP-bindingaa 59–432UCSCAMP-binding enzyme
AMP-binding_Caa 496–572UCSCAMP-binding enzyme C-terminal domain

Gene Aliases

HGNC Name

solute carrier family 27 member 2

HGNC Previous Symbol

FACVL1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003645.4
p.K48Q
c.142A>C
Surrounding Variants
1 paper
NM_003645.4
p.I55delFs
c.164delT
1 paper
NM_003645.4
p.I55T
c.164T>C
1 paper
NM_003645.4
p.K35fs
c.103_104fs
1 paper
NM_003645.4
p.K35delFs
c.104_105delAG
1 paper
NM_003645.4
p.Y32C
c.95A>G
1 paper
NM_003645.4
p.T66P
c.196A>C
8 papers
NM_003645.4
p.P70R
c.209C>G
1 paper
NM_003645.4
p.F71L
c.213T>A
1 paper
NM_003645.4
p.L72L
c.216G>A
1 paper
NM_003645.4
p.E77D
c.231G>C
1 paper
NM_003645.4
p.E77D
c.231G>T
1 paper
NM_003645.4
p.A82A
c.246G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."