Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.W246G

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
23 papers
NM_022726.4
p.W246G
c.736T>G
Surrounding Variants
1 paper
NM_022726.4
p.M247L
c.739A>T
1 paper
NM_022726.4
p.M247L
c.739A>C
1 paper
NM_022726.4
p.M247I
c.741G>T
1 paper
NM_022726.4
p.M247I
c.741G>C
2 papers
NM_022726.4
p.M247I
c.741G>A
1 paper
NM_022726.4
p.P242S
c.724C>T
1 paper
NM_022726.4
p.D240_C241del2
c.718_722del6
1 paper
NM_022726.4
p.A250D
c.749C>A
1 paper
NM_022726.4
p.Y254H
c.760T>C
1 paper
NM_022726.4
p.A255A
c.765A>T
2 papers
NM_022726.4
p.T233T
c.699G>A
16 papers
NM_022726.4
p.T233M
c.698C>T
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