Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL2
Variant:p.H149Y

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
Selected Variant
1 paper
NM_017770.4
p.H149Y
c.445C>T
Surrounding Variants
1 paper
NM_017770.4
p.H149H
c.447T>C
1 paper
NM_017770.4
p.T139delFs
c.415delT
1 paper
NM_017770.4
p.L161L
c.481T>C
1 paper
NM_017770.4
p.N162S
c.485A>G
1 paper
NM_017770.4
p.F133F
c.399C>T
1 paper
NM_017770.4
p.H180Q
c.540C>G
1 paper
NM_017770.4
p.H180Q
c.540C>A
1 paper
NM_017770.4
p.Q207*
c.619C>T
1 paper
NM_017770.4
p.R111W
c.331C>T
1 paper
NM_017770.4
p.L97fs
c.289_290fs
1 paper
NM_017770.4
p.V214M
c.640G>A
1 paper
NM_017770.4
p.H219Y
c.655C>T
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