Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.Y270*

ELOVL4

197 papers

RefSeq Summary

This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in ...

Pfam Domains

ELOaa 41–278UCSCGNS1/SUR4 family

Gene Aliases

HGNC Name

ELOVL fatty acid elongase 4

HGNC Previous Symbols

STGD2; STGD3; SCA34

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
18 papers
NM_022726.4
p.Y270*
c.810C>A
Surrounding Variants
21 papers
NM_022726.4
p.Y270*
c.810C>G
1 paper
NM_022726.4
p.Y270C
c.809A>G
12 papers
NM_022726.4
p.E272Q
c.814G>C
1 paper
NM_022726.4
p.E272D
c.816G>T
1 paper
NM_022726.4
p.E272D
c.816G>C
1 paper
NM_022726.4
p.R268Q
c.803G>A
9 papers
NM_022726.4
p.I267T
c.800T>C
1 paper
NM_022726.4
p.Y266C
c.797A>G
14 papers
NM_022726.4
p.F265delFs
c.794delA
5 papers
NM_022726.4
p.N264_F265delFs
c.790_794del5
2 papers
NM_022726.4
p.L263_F265Fs
c.789_794delinsAACTFs
1 paper
NM_022726.4
p.P276P
c.828A>G
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."