Varaico: Literature-Extracted Genetic Variants

Gene:SLC27A2
Variant:p.R557W

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
1 paper
NM_003645.4
p.R557W
c.1669C>T
Surrounding Variants
1 paper
NM_003645.4
p.F543S
c.1628T>C
1 paper
NM_003645.4
p.D519Splc
c.1555+4T>G
1 paper
NM_003645.4
p.H516Y
c.1546C>T
1 paper
NM_003645.4
p.F477Y
c.1430T>A
1 paper
NM_003645.4
p.F461L
c.1383C>A
1 paper
NM_003645.4
p.F461L
c.1383C>G
1 paper
NM_003645.4
p.F461L
c.1381T>C
1 paper
NM_003645.4
p.K447N
c.1341G>C
1 paper
NM_003645.4
p.K447N
c.1341G>T
1 paper
NM_003645.4
p.C414C
c.1242C>T
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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."