Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.P276P

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
1 paper
NM_022726.4
p.P276P
c.828A>G
Surrounding Variants
1 paper
NM_022726.4
p.A278A
c.834T>G
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.T281S
c.841A>T
12 papers
NM_022726.4
p.E272Q
c.814G>C
1 paper
NM_022726.4
p.T281delFs
c.841delT
21 papers
NM_022726.4
p.Y270*
c.810C>G
18 papers
NM_022726.4
p.Y270*
c.810C>A
1 paper
NM_022726.4
p.Y270C
c.809A>G
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
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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."