Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.K307R

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.K307R
c.920A>G
Surrounding Variants
1 paper
NM_022726.4
p.K305delFs
c.914delT
1 paper
NM_022726.4
p.K304I
c.911A>T
1 paper
NM_022726.4
p.K310R
c.929A>G
1 paper
NM_022726.4
p.A311T
c.931G>A
1 paper
NM_022726.4
p.E301G
c.902A>G
23 papers
NM_022726.4
p.M299V
c.895A>G
1 paper
NM_022726.4
p.T281delFs
c.841delT
1 paper
NM_022726.4
p.T281S
c.841A>T
1 paper
NM_022726.4
p.A278A
c.834T>G
1 paper
NM_022726.4
p.P276P
c.828A>G
1 paper
NM_022726.4
p.E272D
c.816G>T
1 paper
NM_022726.4
p.E272D
c.816G>C
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