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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SELENOF

SELENOF

11 papers

RefSeq Summary

The protein encoded by this gene belongs to the SEP15/selenoprotein M family. The exact function of this protein is not known; however, it has been found to associate with UDP-glucose:glycoprotein glu...

Pfam Domains

Sep15_SelMaa 88–163UCSCSep15/SelM redox domain

Gene Aliases

HGNC Name

selenoprotein F

HGNC Alias Symbol

SEP15

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr1:86914111 T>C

NM_004261.5

p.M1V

c.1A>G

exact variant not in gnomAD236 overlapping SVs

2 papers

chr1:86914083 C>T

NM_004261.5

p.G10E

c.29G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)236 overlapping SVs

1 paper

chr1:86914106 T>TACACTCCTAAC

NM_004261.5

p.V2insFs

c.5_6ins11

exact variant not in gnomAD236 overlapping SVs

1 paper

chr1:86903448 C>A

NM_004261.5

p.V29L

c.85G>T

Exome: 1.4% (AC=20530, hom=189)Genome: 1.1% (AC=1700, hom=21)234 overlapping SVs

1 paper

chr1:86903448 C>G

NM_004261.5

p.V29L

c.85G>C

exact variant not in gnomAD234 overlapping SVs

1 paper

chr1:86880661 C>G

NM_004261.5

p.A106Splc

c.316+1G>C

Sep15_SelM

Exome: 0.0% (AC=599, hom=0)Genome: 0.0% (AC=0, hom=0)235 overlapping SVs

1 paper

chr1:86880659 T>A

NM_004261.5

p.A106Splc

c.316+3A>T

Exome: 0.0% (AC=606, hom=0)Genome: 0.0% (AC=0, hom=0)235 overlapping SVs

1 paper

chr1:86868061 G>A

NM_004261.5

p.Q120*

c.358C>T

Sep15_SelM

Exome: 0.0% (AC=0, hom=0)Genome: n/a236 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."