Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL3

ELOVL3

29 papers

RefSeq Summary

This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ce...

Pfam Domains

ELOaa 29–266UCSCGNS1/SUR4 family

Gene Aliases

HGNC Name

ELOVL fatty acid elongase 3

HGNC Alias Symbol

CIG-30

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
2 papers
NM_152310.3
p.D109N
c.325G>A
1 paper
NM_152310.3
p.R27K
c.80G>A
1 paper
NM_152310.3
p.F29I
c.85T>A
1 paper
NM_152310.3
p.E32E
c.96G>A
1 paper
NM_152310.3
p.Y33C
c.98A>G
1 paper
NM_152310.3
p.V46L
c.136G>C
1 paper
NM_152310.3
p.V46F
c.136G>T
1 paper
NM_152310.3
p.N53S
c.158A>G
1 paper
NM_152310.3
p.R58C
c.172C>T
1 paper
NM_152310.3
p.W86*
c.257G>A
1 paper
NM_152310.3
p.W86*
c.258G>A
1 paper
NM_152310.3
p.G129Splc
c.385+38A>G
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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."