Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.Q180P

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
17 papers
NM_022726.4
p.Q180P
c.539A>C
Surrounding Variants
1 paper
NM_022726.4
p.A181Splc
c.541+5G>A
1 paper
NM_022726.4
p.A177T
c.529G>A
16 papers
NM_022726.4
p.I171T
c.512T>C
2 papers
NM_022726.4
p.I171L
c.511A>C
23 papers
NM_022726.4
p.L168F
c.504G>T
24 papers
NM_022726.4
p.L168F
c.504G>C
4 papers
NM_022726.4
p.L168S
c.503T>C
3 papers
NM_022726.4
p.C163R
c.487T>C
2 papers
NM_022726.4
p.H162Q
c.486C>G
2 papers
NM_022726.4
p.H162Q
c.486C>A
2 papers
NM_022726.4
p.H161Q
c.483T>G
2 papers
NM_022726.4
p.H161Q
c.483T>A
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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."