I3L0W7 · I3L0W7_HUMAN

  • Protein
    Zinc finger protein 750
  • Gene
    ZNF750
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

132450100150200250300
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
COSV53962149
COSV105034674
COSV53958769
1M>?cosmic curated
COSV539607826G>Ecosmic curated
COSV1050347237S>Ncosmic curated
COSV53962639
rs756567361
10T>Mcosmic curated
ExAC
TOPMed
gnomAD
COSV5395869812S>Fcosmic curated
COSV10503467014G>Ecosmic curated
COSV105034663
rs974034003
16P>Lcosmic curated
TOPMed
gnomAD
COSV9948983817S>Rcosmic curated
COSV9948996419T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV10605601929E>*cosmic curated
COSV53963218
rs572349776
29E>Kcosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSV107200894
RCV000890260
RCV003968113
rs138391103
36N>K
ZNF750-related disorder (ClinVar)
Benign (Ensembl, ClinVar)cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV5395939644G>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV9948950845R>Gcosmic curated
COSV9948984845R>Tcosmic curated
COSV53960854
COSV99489642
rs748944330
48P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV53960854
COSV99489642
48P>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV9948954556F>Lcosmic curated
COSV107199375
rs144851291
63T>Icosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV9948977264E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV5396098967P>Acosmic curated
COSV10503472867P>Scosmic curated
COSV53959345
rs762115687
86G>Rcosmic curated
ExAC
TOPMed
gnomAD
COSV9948991589P>Scosmic curated
COSV5395858693G>Ecosmic curated
COSV53960413
rs377519504
95A>Tcosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV5396298796S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV9905266897L>Fcosmic curated
COSV99489619
rs1475213229
99S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
TOPMed
dbSNP
gnomAD
COSV104588761100E>Kcosmic curated
COSV105835544
rs1472455890
102A>Tcosmic curated
TOPMed
gnomAD
COSV53958190102A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53958873104S>Ccosmic curated
COSV53959112108D>Acosmic curated
COSV53960756
rs769210534
108D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV108069091113G>Acosmic curated
COSV53959407114P>Scosmic curated
COSV106385907118S>Fcosmic curated
COSV53960289122E>Kcosmic curated
COSV53962538126A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53960093
rs766066825
130E>K
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV53961012
rs1304694131
132T>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV53959594142A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53960527145S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53962998152L>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53958516154L>Icosmic curated
COSV53963174155S>Lcosmic curated
COSV107199086
rs747857500
158D>Ncosmic curated
ExAC
gnomAD
COSV53962659
rs145441025
165P>Lcosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV105034730167P>Tcosmic curated
COSV108069095171G>Dcosmic curated
COSV53960127
rs536499326
171G>Scosmic curated
ExAC
TOPMed
gnomAD
COSV53962528172R>*cosmic curated
COSV53961801
rs1027990090
172R>Gcosmic curated
TOPMed
gnomAD
COSV53960904
rs768704098
172R>Qcosmic curated
ExAC
TOPMed
gnomAD
COSV53961811174R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53963186180A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV107200898187G>Rcosmic curated
COSV53959066191S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53959792
rs2053399509
192E>Q
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
gnomAD
COSV99489975196S>Icosmic curated
COSV99489770
rs762687130
207G>Scosmic curated
ExAC
gnomAD
COSV53961074
rs771099904
210A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV53962400
rs2053391614
212P>Hcosmic curated
TOPMed
COSV53961473212P>Lcosmic curated
COSV53960324
rs372202694
216G>Ccosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV53960324
COSV99489678
rs372202694
216G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSV53959569
rs374408281
217E>Kcosmic curated
ESP
ExAC
TOPMed
gnomAD
COSV107199100220P>Lcosmic curated
COSV53959416
COSV53961042
224A>G
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53961604
rs746485705
224A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV53961042
rs777328077
224A>Vcosmic curated
ExAC
gnomAD
COSV108069094227S>Gcosmic curated
COSV53961029
rs780561279
228S>RVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
COSV53961153233Q>Hcosmic curated
COSV53960032235A>Tcosmic curated
COSV53960730236A>Vcosmic curated
COSV53958277
rs757314791
237V>MVariant of uncertain significance (Ensembl)cosmic curated
ExAC
gnomAD
COSV53962776245Y>*cosmic curated
COSV105819913248R>Kcosmic curated
COSV99489857
rs772763914
251R>W
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
dbSNP
gnomAD
COSV53963012253G>Ccosmic curated
COSV53960717
rs2053371629
254D>Ncosmic curated
Ensembl
COSV107200494255G>Ecosmic curated
COSV99489850
rs1404974378
255G>R
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
dbSNP
gnomAD
COSV53960005256D>Gcosmic curated
COSV99489948256D>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99489960258A>Vcosmic curated
COSV53960344259A>Tcosmic curated
COSV53960062
rs747118542
260P>LVariant of uncertain significance (Ensembl)cosmic curated
ExAC
TOPMed
gnomAD
COSV53962411264C>Y
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV104588768265R>Lcosmic curated
COSV99489493266Q>E
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53962016
rs140298019
274M>VVariant of uncertain significance (Ensembl)cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV53961743287G>Ecosmic curated
COSV53959778289K>N
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53961520294R>Scosmic curated
COSV53961349
rs2053356182
295D>Ncosmic curated
Ensembl
COSV53962279302G>Ecosmic curated
COSV53959762304K>Ncosmic curated
COSV53959844
rs753642559
306A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
COSV53959225
rs370565250
310D>Ncosmic curated
ESP
TOPMed
gnomAD
COSV53962941312A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV99489810318R>*
Variant assessed as Somatic; HIGH impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
COSV53962885319R>Kcosmic curated
COSV53961214320R>Scosmic curated
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