Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.R1400*

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
6 papers
NM_005121.3
p.R1400*
c.4198C>T
Surrounding Variants
1 paper
NM_005121.3
p.E1397_S1398Splc
c.4192-1G>C
2 papers
NM_005121.3
p.R1409*
c.4225C>T
1 paper
NM_005121.3
p.K1425K
c.4275A>G
1 paper
NM_005121.3
p.A1432P
c.4294G>C
1 paper
NM_005121.3
p.D1440D
c.4320C>T
1 paper
NM_005121.3
p.Y1458C
c.4373A>G
1 paper
NM_005121.3
p.G1461Splc
c.4381+22T>C
1 paper
NM_005121.3
p.Y1463C
c.4388A>G
1 paper
NM_005121.3
p.L1479S
c.4436T>C
1 paper
NM_005121.3
p.Q1492P
c.4475A>C
3 papers
NM_005121.3
p.T1496fs
c.4486_4487fs
2 papers
NM_005121.3
p.T1496delFs
c.4487delG
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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."