Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.S58Fs

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.S58Fs
c.172_174delinsCCCTCFs
Surrounding Variants
1 paper
NM_005121.3
p.S58delins
c.173_174delinsTG
1 paper
NM_005121.3
p.S58Fs
c.172_174delinsTCCCCTCFs
1 paper
NM_005121.3
p.S58Fs
c.173delinsCCFs
1 paper
NM_005121.3
p.S58fs
c.172_173fs
1 paper
NM_005121.3
p.L61H
c.182T>A
1 paper
NM_005121.3
p.P42_I53del0
c.124_159del36
1 paper
NM_005121.3
p.V65A
c.194T>C
1 paper
NM_005121.3
p.D51N
c.151G>A
1 paper
NM_005121.3
p.E50D
c.150A>T
1 paper
NM_005121.3
p.E50D
c.150A>C
1 paper
NM_005121.3
p.A41_E50del0
c.122_148del27
1 paper
NM_005121.3
p.E49delins
c.146_147delinsTG
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