Varaico: Literature-Extracted Genetic Variants

Gene:MED16
Variant:p.S671delFs

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.S671delFs
c.2011delT
Surrounding Variants
1 paper
NM_005481.3
p.S671fs
c.2011_2012fs
1 paper
NM_005481.3
p.T679N
c.2036C>A
1 paper
NM_005481.3
p.V661L
c.1981G>C
1 paper
NM_005481.3
p.V660A
c.1979T>C
1 paper
NM_005481.3
p.S685T
c.2054G>C
1 paper
NM_005481.3
p.E657K
c.1969G>A
1 paper
NM_005481.3
p.R656Q
c.1967G>A
1 paper
NM_005481.3
p.R691C
c.2071C>T
1 paper
NM_005481.3
p.R691fs
c.2071_2072fs
1 paper
NM_005481.3
p.R691delFs
c.2071delG
1 paper
NM_005481.3
p.K695R
c.2084A>G
1 paper
NM_005481.3
p.F645F
c.1935T>C
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