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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED7

MED7

10 papers

RefSeq Summary

The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcrip...

Pfam Domains

Med7aa 7–164UCSCMED7 protein

Gene Aliases

HGNC Name

mediator complex subunit 7

HGNC Previous Symbol

CRSP9

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr5:157139429 C>A

NM_004270.5

p.M1I

c.3G>T

exact variant not in gnomAD35 overlapping SVs

1 paper

chr5:157139429 C>G

NM_004270.5

p.M1I

c.3G>C

exact variant not in gnomAD35 overlapping SVs

1 paper

chr5:157139429 C>T

NM_004270.5

p.M1I

c.3G>A

exact variant not in gnomAD35 overlapping SVs

1 paper

chr5:157139404 G>T

NM_004270.5

p.L10I

c.28C>A

Med7

exact variant not in gnomAD35 overlapping SVs

1 paper

chr5:157139324 AG>A

NM_004270.5

p.P36delFs

c.107delG

Med7

exact variant not in gnomAD35 overlapping SVs

1 paper

chr5:157139272 G>A

NM_004270.5

p.L54F

c.160C>T

Med7

Exome: 0.0% (AC=90, hom=1)Genome: 0.0% (AC=3, hom=0)34 overlapping SVs

1 paper

chr5:157139236 G>A

NM_004270.5

p.R66W

c.196C>T

Med7

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)34 overlapping SVs

1 paper

chr5:157139217 A>T

NM_004270.5

p.F72Y

c.215T>A

Med7

Exome: 0.0% (AC=102, hom=1)Genome: 0.0% (AC=4, hom=0)34 overlapping SVs

1 paper

chr5:157138989 T>C

NM_004270.5

p.E148G

c.443A>G

Med7

Exome: 0.0% (AC=99, hom=0)Genome: 0.0% (AC=42, hom=0)34 overlapping SVs

1 paper

chr5:157138832 C>CN

NM_004270.5

p.Q200fs

c.598_599fs

exact variant not in gnomAD34 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."