Varaico: Literature-Extracted Genetic Variants

Gene:MED1
Variant:p.A510V

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
4 papers
NM_004774.4
p.A510V
c.1529C>T
Surrounding Variants
1 paper
NM_004774.4
p.R509G
c.1525A>G
3 papers
NM_004774.4
p.Q519H
c.1557A>T
3 papers
NM_004774.4
p.Q519H
c.1557A>C
1 paper
NM_004774.4
p.L527F
c.1579C>T
1 paper
NM_004774.4
p.L527I
c.1579C>A
1 paper
NM_004774.4
p.E533K
c.1597G>A
1 paper
NM_004774.4
p.D534N
c.1600G>A
1 paper
NM_004774.4
p.S545G
c.1633A>G
1 paper
NM_004774.4
p.S596_T605del10
c.1786_1814del30
1 paper
NM_004774.4
p.N638T
c.1913A>C
1 paper
NM_004774.4
p.P643T
c.1927C>A
1 paper
NM_004774.4
p.N652N
c.1956T>C
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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."