Varaico: Literature-Extracted Genetic Variants

Gene:MED16
Variant:p.R565C

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.R565C
c.1693C>T
Surrounding Variants
2 papers
NM_005481.3
p.R565H
c.1694G>A
1 paper
NM_005481.3
p.K574fs
c.1720_1721fs
1 paper
NM_005481.3
p.S575I
c.1724G>T
1 paper
NM_005481.3
p.K574_P576delFs
c.1721_1727del7
1 paper
NM_005481.3
p.D578Y
c.1732G>T
1 paper
NM_005481.3
p.R579_L580delFs
c.1736_1740del5
1 paper
NM_005481.3
p.C584S
c.1751G>C
1 paper
NM_005481.3
p.C584Y
c.1751G>A
1 paper
NM_005481.3
p.C545C
c.1635C>T
1 paper
NM_005481.3
p.L533L
c.1599C>G
1 paper
NM_005481.3
p.R525Q
c.1574G>A
1 paper
NM_005481.3
p.Q519R
c.1556A>G
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