or
or
Exact

Results for "DCAF4"

Variant Events: 11

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
DCAF4     2-1409-003chr14:
73422723-73422723
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DCAF4     AU01303chr14:
73420965-73420965
GCexonicDe novononsynonymous SNVNM_181341
NM_181340
NM_001163508
NM_001163509
NM_015604
c.G722C
c.G602C
c.G905C
c.G839C
c.G902C
p.S241T
p.S201T
p.S302T
p.S280T
p.S301T
24.0-Lim2017 E
Neale2012 E
DCAF4     iHART1257chr14:
73420965-73420965
GCexonicDe novononsynonymous SNVNM_181341
NM_181340
NM_001163508
NM_001163509
NM_015604
c.G722C
c.G602C
c.G905C
c.G839C
c.G902C
p.S241T
p.S201T
p.S302T
p.S280T
p.S301T
24.0-Ruzzo2019 G
DCAF4     SP0015379chr14:
73407001-73407001
CGexonicDe novononsynonymous SNVNM_001163508
NM_001163509
NM_015604
NM_181341
c.C267G
c.C201G
c.C267G
c.C267G
p.N89K
p.N67K
p.N89K
p.N89K
20.8-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
DCAF4     7-0141-003chr14:
73412689-73412689
CTexonicDe novononsynonymous SNVNM_181341
NM_181340
NM_001163508
NM_001163509
NM_015604
c.C449T
c.C332T
c.C632T
c.C566T
c.C632T
p.T150M
p.T111M
p.T211M
p.T189M
p.T211M
13.061.647E-5Trost2022 G
Zhou2022 GE
DCAF4     SP0059815chr14:
73428716-73428716
TGintergenicDe novo--Fu2022 E
DCAF4     2-1232-003chr14:
73415040-73415040
TCintronicDe novo--Trost2022 G
DCAF4     3-0221-000chr14:
73407053-73407053
CTexonicDe novononsynonymous SNVNM_181340
NM_001163508
NM_001163509
NM_015604
NM_181341
c.C19T
c.C319T
c.C253T
c.C319T
c.C319T
p.R7W
p.R107W
p.R85W
p.R107W
p.R107W
16.929.067E-5Trost2022 G
DCAF4     SP0121915chr14:
73428716-73428716
TGintergenicDe novo--Fu2022 E
DCAF4     2-1232-003chr14:
73415035-73415036
GTATAintronicDe novo--Trost2022 G
DCAF4     1-1120-003chr14:
73406338-73406338
CTintronicDe novo--Trost2022 G
Source Variant Information

, -

Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
More