Varaico: Literature-Extracted Genetic Variants

Gene:MED1

MED1

251 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

Med1aa 59–426UCSCMediator of RNA polymerase II transcription subunit 1

Gene Aliases

HGNC Name

mediator complex subunit 1

HGNC Previous Symbols

TRIP2; PPARGBP; PPARBP

Papers
RefSeq ID
Protein change
DNA change
1–12 of 204 variants
5 papers
NM_004774.4
p.Q66P
c.197A>C
4 papers
NM_004774.4
p.A510V
c.1529C>T
3 papers
NM_004774.4
p.S97T
c.290G>C
3 papers
NM_004774.4
p.K172K
c.516A>G
3 papers
NM_004774.4
p.S476S
c.1428C>T
3 papers
NM_004774.4
p.Q519H
c.1557A>T
3 papers
NM_004774.4
p.Q519H
c.1557A>C
2 papers
NM_004774.4
p.Y161C
c.482A>G
2 papers
NM_004774.4
p.N295S
c.884A>G
2 papers
NM_004774.4
p.T344T
c.1032T>A
2 papers
NM_004774.4
p.M715V
c.2143A>G
2 papers
NM_004774.4
p.M728V
c.2182A>G
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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."