Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL1
Variant:p.M50L

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.M50L
c.148A>T
Surrounding Variants
2 papers
NM_022821.4
p.M50L
c.148A>C
1 paper
NM_022821.4
p.L45V
c.133C>G
1 paper
NM_022821.4
p.P55P
c.165C>A
1 paper
NM_022821.4
p.Q57H
c.171G>C
1 paper
NM_022821.4
p.G60V
c.179G>T
1 paper
NM_022821.4
p.G60D
c.179G>A
1 paper
NM_022821.4
p.L35L
c.105C>T
1 paper
NM_022821.4
p.T32T
c.96C>A
1 paper
NM_022821.4
p.T32S
c.94A>T
1 paper
NM_022821.4
p.R18W
c.52C>T
1 paper
NM_022821.4
p.S83L
c.248C>T
1 paper
NM_022821.4
p.T88I
c.263C>T
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