Varaico: Literature-Extracted Genetic Variants

Gene:MED16
Variant:p.N225H

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
1 paper
NM_005481.3
p.N225H
c.673A>C
Surrounding Variants
1 paper
NM_005481.3
p.G224D
c.671G>A
1 paper
NM_005481.3
p.G222S
c.664G>A
2 papers
NM_005481.3
p.A231V
c.692C>T
2 papers
NM_005481.3
p.D217N
c.649G>A
1 paper
NM_005481.3
p.R212fs
c.634_635fs
1 paper
NM_005481.3
p.T201M
c.602C>T
1 paper
NM_005481.3
p.T201R
c.602C>G
1 paper
NM_005481.3
p.R254C
c.760C>T
1 paper
NM_005481.3
p.T189T
c.567C>T
1 paper
NM_005481.3
p.R266C
c.796C>T
1 paper
NM_005481.3
p.F264_R266delFs
c.790_796del7
1 paper
NM_005481.3
p.C267S
c.799T>A
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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."