E9PB93 · E9PB93_HUMAN

  • Protein
    RNA polymerase II subunit D
  • Gene
    POLR2D
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    2/5

Variants

1104102030405060708090100
MLLEHRKQQNESAEDEQELSEVFMKTLNYTARFSRFKNRETIASVRSLLLQKKLHKFELACLANLCPETAEESKALIPSLEGRFEDEELQQILDDIQTKRSFQY
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV1045541332L>Fcosmic curated
rs12875014216R>*TOPMed
gnomAD
rs13826807968Q>LgnomAD
rs20144689411E>G1000Genomes
COSV9976108611E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5575904412S>Ccosmic curated
COSV5575932416E>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs19985844418E>G1000Genomes
rs210472513418E>KEnsembl
rs169027493820S>*Ensembl
COSV5575837220S>Lcosmic curated
rs124040994722V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs169027481824M>TEnsembl
rs36758630724M>VESP
ExAC
gnomAD
rs75867268828N>KExAC
gnomAD
rs14273446129Y>CESP
TOPMed
gnomAD
rs123609087829Y>NTOPMed
rs169027447832R>CEnsembl
COSV9976091332R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs120717274433F>LEnsembl
rs75098647035R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
COSV55758804
rs779254562
35R>Hcosmic curated
ExAC
TOPMed
gnomAD
COSV5575832638N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5575819039R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs142529209339R>GgnomAD
rs155898216440E>DEnsembl
rs37426851341T>IESP
ExAC
gnomAD
rs89295640043A>VEnsembl
COSV55758592
rs1446487220
44S>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV5575865146R>Ccosmic curated
COSV5575927946R>Hcosmic curated
COSV5575820551Q>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs75616590551Q>RExAC
gnomAD
COSV10801015553K>Ncosmic curated
COSV5575930953K>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs75295665355H>PExAC
gnomAD
rs75295665355H>RExAC
gnomAD
COSV10455414655H>Ycosmic curated
rs104986070758E>DEnsembl
rs169023749061C>REnsembl
rs14803399261C>SESP
TOPMed
gnomAD
rs14803399261C>YESP
TOPMed
gnomAD
COSV5575850564N>Icosmic curated
COSV55758505
COSV55758505,COSV99761030
COSV99761030
rs1173877336
64N>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs117387733664N>TTOPMed
gnomAD
rs37410461565L>FESP
ExAC
TOPMed
gnomAD
COSV5575954668E>Qcosmic curated
COSV5575884071E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs14579196373S>AVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs77326525575A>VExAC
gnomAD
rs120335081377I>VgnomAD
COSV5575866278P>Qcosmic curated
COSV55758453
rs141939117
79S>Gcosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV10724690879S>Icosmic curated
rs155898073181E>DEnsembl
rs124690054583R>GTOPMed
gnomAD
COSV55758622
rs763805041
83R>Qcosmic curated
ExAC
TOPMed
gnomAD
COSV55758237
rs1246900545
83R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
COSV5575877286D>Hcosmic curated
rs138014709587E>KgnomAD
COSV5575818090Q>Rcosmic curated
rs169018544092I>VEnsembl
COSV5575829393L>Icosmic curated
rs53177432893L>VExAC
TOPMed
gnomAD
rs142207685594D>EgnomAD
rs147882715494D>NTOPMed
rs169018514096I>TTOPMed
gnomAD
rs138385943699K>QgnomAD
rs775193880100R>CExAC
TOPMed
gnomAD
COSV99760901100R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
rs771326394100R>LExAC
gnomAD
COSV55759260101S>Ncosmic curated
COSV55759561104Y>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
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