Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL1
Variant:p.T125_V126Splc

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
Selected Variant
2 papers
NM_022821.4
p.T125_V126Splc
c.376-2A>G
Surrounding Variants
1 paper
NM_022821.4
p.V126V
c.378G>A
1 paper
NM_022821.4
p.R131Q
c.392G>A
1 paper
NM_022821.4
p.K132*
c.394A>T
1 paper
NM_022821.4
p.F143I
c.427T>A
1 paper
NM_022821.4
p.S146F
c.437C>T
1 paper
NM_022821.4
p.V142_W152ins3
c.424_456dup33
1 paper
NM_022821.4
p.W153R
c.457T>C
1 paper
NM_022821.4
p.W153R
c.457T>A
1 paper
NM_022821.4
p.W154*
c.461G>A
1 paper
NM_022821.4
p.W154*
c.462G>A
2 papers
NM_022821.4
p.G155R
c.463G>C
2 papers
NM_022821.4
p.G155R
c.463G>A
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