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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED9

Variant:p.G106D

MED9

10 papers

RefSeq Summary

The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a su...

Pfam Domains

Med9aa 64–139UCSCRNA polymerase II transcription mediator complex subunit 9

Gene Aliases

HGNC Name

mediator complex subunit 9

HGNC Alias Symbol

FLJ10193

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr17:17491371 G>A

NM_018019.3

p.G106D

c.317G>A

Med9

exact variant not in gnomAD6 overlapping SVs

Surrounding Variants

1 paper

chr17:17491370 G>A

NM_018019.3

p.G106S

c.316G>A

Med9

Exome: 0.0% (AC=55, hom=0)Genome: 0.0% (AC=6, hom=0)6 overlapping SVs

3 papers

chr17:17491390 ACAG>A

NM_018019.3

p.Q113del1

c.337_338delCAG

Med9

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=0, hom=0)6 overlapping SVs

2 papers

chr17:17491297 G>A

NM_018019.3

p.P81P

c.243G>A

Med9

Exome: 28.7% (AC=419392, hom=63514)Genome: 22.9% (AC=34906, hom=4960)6 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."