Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL1

ELOVL1

55 papers

Pfam Domains

ELOaa 23–263UCSCGNS1/SUR4 family

Gene Aliases

HGNC Name

ELOVL fatty acid elongase 1

HGNC Alias Symbol

Ssc1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
9 papers
NM_022821.4
p.S165F
c.494C>T
2 papers
NM_022821.4
p.M50L
c.148A>T
2 papers
NM_022821.4
p.M50L
c.148A>C
2 papers
NM_022821.4
p.T125_V126Splc
c.376-2A>G
2 papers
NM_022821.4
p.G155R
c.463G>C
2 papers
NM_022821.4
p.G155R
c.463G>A
2 papers
NM_022821.4
p.I233V
c.697A>G
2 papers
NM_022821.4
p.K277M
c.830A>T
1 paper
NM_022821.4
p.M1I
c.3G>T
1 paper
NM_022821.4
p.M1I
c.3G>C
1 paper
NM_022821.4
p.M1I
c.3G>A
1 paper
NM_022821.4
p.A3T
c.7G>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."