Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.S1518fs

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
1 paper
NM_005121.3
p.S1518fs
c.4552_4553fs
Surrounding Variants
1 paper
NM_005121.3
p.S1518delFs
c.4552delA
1 paper
NM_005121.3
p.V1526F
c.4576G>T
2 papers
NM_005121.3
p.T1496delFs
c.4487delG
3 papers
NM_005121.3
p.T1496fs
c.4486_4487fs
1 paper
NM_005121.3
p.Q1492P
c.4475A>C
3 papers
NM_005121.3
p.S1548G
c.4642A>G
1 paper
NM_005121.3
p.L1479S
c.4436T>C
1 paper
NM_005121.3
p.Y1463C
c.4388A>G
1 paper
NM_005121.3
p.S1601*
c.4802C>G
1 paper
NM_005121.3
p.S1601*
c.4802C>A
2 papers
NM_005121.3
p.P1608L
c.4823C>T
1 paper
NM_005121.3
p.G1461Splc
c.4381+22T>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."