Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL2

ELOVL2

42 papers

Pfam Domains

ELOaa 30–265UCSCGNS1/SUR4 family

Gene Aliases

HGNC Name

ELOVL fatty acid elongase 2

HGNC Alias Symbol

Ssc2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
4 papers
NM_017770.4
p.C234W
c.702T>G
2 papers
NM_017770.4
p.V225M
c.673G>A
2 papers
NM_017770.4
p.G233S
c.697G>A
2 papers
NM_017770.4
p.R258Q
c.773G>A
1 paper
NM_017770.4
p.M1I
c.3G>T
1 paper
NM_017770.4
p.M1I
c.3G>C
1 paper
NM_017770.4
p.M1I
c.3G>A
1 paper
NM_017770.4
p.M1_E2Splc
c.3+468C>G
1 paper
NM_017770.4
p.D23Splc
c.67+33G>T
1 paper
NM_017770.4
p.V26V
c.78C>G
1 paper
NM_017770.4
p.D33V
c.98A>T
1 paper
NM_017770.4
p.I49T
c.146T>C
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