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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELOVL6

ELOVL6

15 papers

RefSeq Summary

Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by O...

Pfam Domains

ELOaa 25–262UCSCGNS1/SUR4 family

Gene Aliases

HGNC Name

ELOVL fatty acid elongase 6

HGNC Alias Symbols

FLJ23378; MGC5487

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr4:110051602 G>A

NM_024090.3

p.Y178Y

c.534C>T

ELO

exact variant not in gnomAD108 overlapping SVs

1 paper

chr4:110198292 T>C

NM_024090.3

p.K15R

c.44A>G

exact variant not in gnomAD114 overlapping SVs

1 paper

chr4:110105627 T>C

NM_024090.3

p.K31E

c.91A>G

ELO

exact variant not in gnomAD109 overlapping SVs

1 paper

chr4:110059720 C>T

NM_024090.3

p.V86M

c.256G>A

ELO

Exome: 0.0% (AC=2, hom=0)Genome: n/a108 overlapping SVs

1 paper

chr4:110052509 C>T

NM_024090.3

p.G125Splc

c.374-747G>A

Exome: n/aGenome: 50.1% (AC=76240, hom=22459)108 overlapping SVs

1 paper

chr4:110051623 A>G

NM_024090.3

p.Y171Y

c.513T>C

ELO

Exome: 0.0% (AC=7, hom=1)Genome: 0.0% (AC=1, hom=0)108 overlapping SVs

1 paper

chr4:110051619 C>T

NM_024090.3

p.V173M

c.517G>A

ELO

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)108 overlapping SVs

1 paper

chr4:110051571 G>A

NM_024090.3

p.R189*

c.565C>T

ELO

Exome: 0.0% (AC=1, hom=0)Genome: n/a108 overlapping SVs

1 paper

chr4:110051562 G>A

NM_024090.3

p.R192W

c.574C>T

ELO

Exome: 0.0% (AC=5, hom=0)Genome: n/a108 overlapping SVs

1 paper

chr4:110051522 T>C

NM_024090.3

p.Q205R

c.614A>G

ELO

exact variant not in gnomAD108 overlapping SVs

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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."