Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.Y590F

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.Y590F
c.1769A>T
Surrounding Variants
1 paper
NM_005121.3
p.Q589P
c.1766A>C
1 paper
NM_005121.3
p.Q591Q
c.1773G>A
1 paper
NM_005121.3
p.Q584R
c.1751A>G
3 papers
NM_005121.3
p.L582*
c.1745T>A
1 paper
NM_005121.3
p.D577G
c.1730A>G
1 paper
NM_005121.3
p.D577H
c.1729G>C
1 paper
NM_005121.3
p.M575V
c.1723A>G
1 paper
NM_005121.3
p.S572T
c.1714T>A
1 paper
NM_005121.3
p.Q556E
c.1666C>G
1 paper
NM_005121.3
p.S553L
c.1658C>T
1 paper
NM_005121.3
p.E627insFs
c.1879dupG
1 paper
NM_005121.3
p.P552P
c.1656T>A
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