Varaico: Literature-Extracted Genetic Variants

Gene:MED13
Variant:p.L1188_I1189delFs

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.L1188_I1189delFs
c.3562_3566del5
Surrounding Variants
1 paper
NM_005121.3
p.R1226C
c.3676C>T
1 paper
NM_005121.3
p.R1226G
c.3676C>G
1 paper
NM_005121.3
p.R1226H
c.3677G>A
1 paper
NM_005121.3
p.D1227E
c.3681C>G
1 paper
NM_005121.3
p.D1227E
c.3681C>A
1 paper
NM_005121.3
p.R1151H
c.3452G>A
4 papers
NM_005121.3
p.G1150E
c.3449G>A
1 paper
NM_005121.3
p.N1230S
c.3689A>G
1 paper
NM_005121.3
p.L1142V
c.3424C>G
1 paper
NM_005121.3
p.S1247L
c.3740C>T
1 paper
NM_005121.3
p.N1268N
c.3804C>T
1 paper
NM_005121.3
p.C1093F
c.3278G>T
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