Varaico: Literature-Extracted Genetic Variants

Gene:MED1
Variant:p.P748S

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
Selected Variant
1 paper
NM_004774.4
p.P748S
c.2242C>T
Surrounding Variants
2 papers
NM_004774.4
p.M728V
c.2182A>G
1 paper
NM_004774.4
p.S774N
c.2321G>A
2 papers
NM_004774.4
p.M715V
c.2143A>G
1 paper
NM_004774.4
p.S714S
c.2142A>G
1 paper
NM_004774.4
p.L712L
c.2134C>T
1 paper
NM_004774.4
p.K792Q
c.2374A>C
1 paper
NM_004774.4
p.Q703*
c.2107C>T
1 paper
NM_004774.4
p.S795N
c.2384G>A
1 paper
NM_004774.4
p.P700Q
c.2099C>A
1 paper
NM_004774.4
p.P700T
c.2098C>A
1 paper
NM_004774.4
p.R808Q
c.2423G>A
1 paper
NM_004774.4
p.T687A
c.2059A>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."