Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL5
Variant:p.Y184C

ELOVL5

53 papers

RefSeq Summary

This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is i...

Pfam Domains

ELOaa 27–262UCSCGNS1/SUR4 family

Gene Aliases

HGNC Name

ELOVL fatty acid elongase 5

HGNC Previous Symbol

SCA38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_021814.5
p.Y184C
c.551A>G
Surrounding Variants
1 paper
NM_021814.5
p.S188L
c.563C>T
1 paper
NM_021814.5
p.F175fs
c.523_524fs
1 paper
NM_021814.5
p.P194L
c.581C>T
1 paper
NM_021814.5
p.G164S
c.490G>A
1 paper
NM_021814.5
p.W154L
c.461G>T
1 paper
NM_021814.5
p.T140M
c.419C>T
1 paper
NM_021814.5
p.Q138*
c.412C>T
1 paper
NM_021814.5
p.R111H
c.332G>A
1 paper
NM_021814.5
p.L207_L208Splc
c.622-10G>A
1 paper
NM_021814.5
p.Q216*
c.646C>T
1 paper
NM_021814.5
p.P224S
c.670C>T
9 papers
NM_021814.5
p.G230V
c.689G>T
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