Varaico: Literature-Extracted Genetic Variants

Gene:MED16
Variant:p.H449Q

MED16

80 papers

Pfam Domains

WD40aa 72–109UCSCWD domain, G-beta repeat
Med16_Naa 119–420UCSCMediator complex subunit 16, N-terminal
Med16_bridgeaa 477–665UCSCMediator complex subunit 16, central helical bridge
Med16_Caa 736–829UCSCMediator complex subunit 16, C-terminal

Gene Aliases

HGNC Name

mediator complex subunit 16

HGNC Previous Symbol

THRAP5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005481.3
p.H449Q
c.1347C>A
Surrounding Variants
3 papers
NM_005481.3
p.H449Q
c.1347C>G
1 paper
NM_005481.3
p.P427S
c.1279C>T
1 paper
NM_005481.3
p.G426D
c.1277G>A
1 paper
NM_005481.3
p.H387N
c.1159C>A
1 paper
NM_005481.3
p.L384Q
c.1151T>A
1 paper
NM_005481.3
p.G381R
c.1141G>C
1 paper
NM_005481.3
p.G381R
c.1141G>A
1 paper
NM_005481.3
p.G381R
c.1141G>A
1 paper
NM_005481.3
p.K369Q
c.1105A>C
1 paper
NM_005481.3
p.S362L
c.1085C>T
1 paper
NM_005481.3
p.S352L
c.1055C>T
1 paper
NM_005481.3
p.V351A
c.1052T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."