Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.C15Y

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
2 papers
NM_005121.3
p.C15Y
c.44G>A
Surrounding Variants
3 papers
NM_005121.3
p.C15S
c.44G>C
1 paper
NM_005121.3
p.S11delFs
c.33delG
1 paper
NM_005121.3
p.A10A
c.30C>T
1 paper
NM_005121.3
p.P7S
c.19C>T
1 paper
NM_005121.3
p.V6L
c.16G>T
1 paper
NM_005121.3
p.V6L
c.16G>C
1 paper
NM_005121.3
p.A3S
c.7G>T
1 paper
NM_005121.3
p.M1fs
c.1_2fs
1 paper
NM_005121.3
p.A23V
c.68C>T
1 paper
NM_005121.3
p.G27R
c.79G>C
1 paper
NM_005121.3
p.K31R
c.92A>G
3 papers
NM_005121.3
p.P42fs
c.124_125fs
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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."