Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.Y834C

MED13

202 papers

RefSeq Summary

This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The...

Pfam Domains

MID_MedPIWIaa 1367–1724UCSCMID domain of medPIWI
Med13_Caa 1760–2163UCSCMediator complex subunit 13 C-terminal domain

Gene Aliases

HGNC Name

mediator complex subunit 13

HGNC Previous Symbol

THRAP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_005121.3
p.Y834C
c.2501A>G
Surrounding Variants
3 papers
NM_005121.3
p.P835S
c.2503C>T
1 paper
NM_005121.3
p.P835A
c.2503C>G
2 papers
NM_005121.3
p.L830R
c.2489T>G
1 paper
NM_005121.3
p.S839*
c.2516C>G
1 paper
NM_005121.3
p.S839*
c.2516C>A
1 paper
NM_005121.3
p.M845fs
c.2533_2534fs
1 paper
NM_005121.3
p.M845Fs
c.2533delinsCATTGGGATTTTCATATTCATFs
2 papers
NM_005121.3
p.S848Y
c.2543C>A
1 paper
NM_005121.3
p.G865Fs
c.2593_2594delinsCFs
1 paper
NM_005121.3
p.L869L
c.2605C>T
1 paper
NM_005121.3
p.E883*
c.2647G>T
1 paper
NM_005121.3
p.D885H
c.2653G>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."