Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL4
Variant:p.I146fs

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.I146fs
c.436_437fs
Surrounding Variants
3 papers
NM_022726.4
p.F145insFs
c.435dupT
1 paper
NM_022726.4
p.T142A
c.424A>G
1 paper
NM_022726.4
p.N151S
c.452A>G
1 paper
NM_022726.4
p.F156L
c.466T>C
1 paper
NM_022726.4
p.F156L
c.468C>G
1 paper
NM_022726.4
p.F156L
c.468C>A
3 papers
NM_022726.4
p.H158Q
c.474T>G
3 papers
NM_022726.4
p.H158Q
c.474T>A
2 papers
NM_022726.4
p.H161Q
c.483T>G
2 papers
NM_022726.4
p.H161Q
c.483T>A
2 papers
NM_022726.4
p.H162Q
c.486C>G
2 papers
NM_022726.4
p.H162Q
c.486C>A
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