Varaico: Literature-Extracted Genetic Variants

Gene:MED16
Variant:p.R800Splc

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.R800Splc
c.2399+13C>G
Surrounding Variants
1 paper
NM_005481.3
p.R800T
c.2399G>C
1 paper
NM_005481.3
p.C790_K796del7
c.2368_2387del21
1 paper
NM_005481.3
p.R800T
c.2399G>C
1 paper
NM_005481.3
p.W819R
c.2455T>C
1 paper
NM_005481.3
p.W819R
c.2455T>A
1 paper
NM_005481.3
p.Q821*
c.2461C>T
1 paper
NM_005481.3
p.R822H
c.2465G>A
1 paper
NM_005481.3
p.W819_R822ins1
c.2457_2465dup9
1 paper
NM_005481.3
p.L828Splc
c.2483+5G>A
1 paper
NM_005481.3
p.D836G
c.2507A>G
1 paper
NM_005481.3
p.V839M
c.2515G>A
1 paper
NM_005481.3
p.E874K
c.2620G>A
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