Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL3
Variant:p.G129Splc

ELOVL3

29 papers

RefSeq Summary

This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ce...

Pfam Domains

ELOaa 29–266UCSCGNS1/SUR4 family

Gene Aliases

HGNC Name

ELOVL fatty acid elongase 3

HGNC Alias Symbol

CIG-30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152310.3
p.G129Splc
c.385+38A>G
Surrounding Variants
2 papers
NM_152310.3
p.D109N
c.325G>A
1 paper
NM_152310.3
p.W86*
c.258G>A
1 paper
NM_152310.3
p.W86*
c.257G>A
1 paper
NM_152310.3
p.A132S
c.394G>T
1 paper
NM_152310.3
p.F170L
c.508T>C
1 paper
NM_152310.3
p.F170L
c.510C>A
1 paper
NM_152310.3
p.F170L
c.510C>G
1 paper
NM_152310.3
p.V171I
c.511G>A
1 paper
NM_152310.3
p.A189G
c.566C>G
1 paper
NM_152310.3
p.A190_K193delFs
c.568_578del11
1 paper
NM_152310.3
p.K193fs
c.577_578fs
1 paper
NM_152310.3
p.P194insFs
c.580dupC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."