Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4

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
1–12 of 138 variants
24 papers
NM_022726.4
p.L168F
c.504G>C
23 papers
NM_022726.4
p.L168F
c.504G>T
23 papers
NM_022726.4
p.W246G
c.736T>G
23 papers
NM_022726.4
p.M299V
c.895A>G
21 papers
NM_022726.4
p.Y270*
c.810C>G
18 papers
NM_022726.4
p.Y270*
c.810C>A
17 papers
NM_022726.4
p.Q180P
c.539A>C
16 papers
NM_022726.4
p.I171T
c.512T>C
16 papers
NM_022726.4
p.T233M
c.698C>T
14 papers
NM_022726.4
p.F265delFs
c.794delA
12 papers
NM_022726.4
p.L263delFs
c.789delA
12 papers
NM_022726.4
p.E272Q
c.814G>C
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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."