Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.S288*

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.S288*
c.863C>G
Surrounding Variants
1 paper
NM_005121.3
p.S288*
c.863C>A
1 paper
NM_005121.3
p.Q287H
c.861G>T
1 paper
NM_005121.3
p.Q287H
c.861G>C
1 paper
NM_005121.3
p.P286fs
c.856_857fs
1 paper
NM_005121.3
p.P286delFs
c.857delG
2 papers
NM_005121.3
p.P286fs
c.856_857fs
1 paper
NM_005121.3
p.L284V
c.850C>G
1 paper
NM_005121.3
p.P293R
c.878C>G
1 paper
NM_005121.3
p.R275Q
c.824G>A
1 paper
NM_005121.3
p.L306F
c.918G>T
1 paper
NM_005121.3
p.L306F
c.918G>C
2 papers
NM_005121.3
p.T326A
c.976A>G
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