Varaico: Literature-Extracted Genetic Variants

Gene:SLC27A2
Variant:p.R347_Q348insFs

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.R347_Q348insFs
c.1041_1042ins17
Surrounding Variants
1 paper
NM_003645.4
p.Q348fs
c.1042_1043fs
1 paper
NM_003645.4
p.R347insFs
c.1040_1041insT
1 paper
NM_003645.4
p.R347fs
c.1039_1040fs
1 paper
NM_003645.4
p.W346fs
c.1036_1037fs
1 paper
NM_003645.4
p.V345_W346delFs
c.1035_1038del4
1 paper
NM_003645.4
p.V345insFs
c.1033_1034ins14
1 paper
NM_003645.4
p.V345fs
c.1033_1034fs
1 paper
NM_003645.4
p.L341F
c.1023A>C
1 paper
NM_003645.4
p.L341F
c.1023A>T
1 paper
NM_003645.4
p.F361F
c.1083C>T
2 papers
NM_003645.4
p.V378L
c.1132G>C
1 paper
NM_003645.4
p.C414C
c.1242C>T
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