Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.R512*

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.R512*
c.1534C>T
Surrounding Variants
1 paper
NM_005121.3
p.R512Q
c.1535G>A
1 paper
NM_005121.3
p.R496fs
c.1486_1487fs
2 papers
NM_005121.3
p.P540T
c.1618C>A
1 paper
NM_005121.3
p.R479P
c.1436G>C
1 paper
NM_005121.3
p.P552P
c.1656T>A
1 paper
NM_005121.3
p.R471C
c.1411C>T
1 paper
NM_005121.3
p.S553L
c.1658C>T
1 paper
NM_005121.3
p.Q556E
c.1666C>G
1 paper
NM_005121.3
p.P454L
c.1361C>T
1 paper
NM_005121.3
p.P454S
c.1360C>T
1 paper
NM_005121.3
p.I452T
c.1355T>C
1 paper
NM_005121.3
p.S572T
c.1714T>A
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