Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.T326I

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.T326I
c.977C>T
Surrounding Variants
1 paper
NM_005121.3
p.T326K
c.977C>A
2 papers
NM_005121.3
p.T326A
c.976A>G
1 paper
NM_005121.3
p.L325_T326del1
c.975_977delGTA
7 papers
NM_005121.3
p.P327S
c.979C>T
1 paper
NM_005121.3
p.T326del1
c.976_977delTGT
2 papers
NM_005121.3
p.P327Q
c.980C>A
1 paper
NM_005121.3
p.P328S
c.982C>T
1 paper
NM_005121.3
p.E332G
c.995A>G
2 papers
NM_005121.3
p.V337Splc
c.1009+8A>G
1 paper
NM_005121.3
p.L306F
c.918G>T
1 paper
NM_005121.3
p.L306F
c.918G>C
1 paper
NM_005121.3
p.P293R
c.878C>G
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