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Results for "BRAF"

Variant Events: 40

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
BRAF     AGRE_03C17233chr7:
140534477-140534477
GAexonicUnknownnonsynonymous SNVNM_004333c.C436Tp.R146W20.8-Wang2020 T
BRAF     2-1415-004chr7:
140579411-140579411
CCAATTintronicDe novo--Trost2022 G
Yuen2017 G
BRAF     AU1308303chr7:
140451767-140451767
TCintronicDe novo--Trost2022 G
Yuen2017 G
BRAF     AU3712301chr7:
140479718-140479718
CTintronicDe novo--Yuen2017 G
BRAF     5-0061-003chr7:
140569745-140569745
TCintronicDe novo--Trost2022 G
Yuen2017 G
BRAF     7-0143-004chr7:
140483780-140483780
TCintronicDe novo--Trost2022 G
BRAF     Miyake2023:8553chr7:
140501350-140501350
GAexonicDe novononsynonymous SNVNM_004333c.C722Tp.T241M25.2-Miyake2023 E
BRAF     MSSNG00329-003chr7:
140490392-140490392
TCintronicDe novo--Trost2022 G
BRAF     AU3782302chr7:
140445974-140445974
ATintronicDe novo--Trost2022 G
BRAF     AU3918301chr7:
140636003-140636003
AGintergenicDe novo--Yuen2017 G
BRAF     AU3782302chr7:
140445982-140445982
GCintronicDe novo--Trost2022 G
BRAF     7-0247-003chr7:
140508250-140508250
AGintronicDe novo--Trost2022 G
Yuen2017 G
BRAF     SP0044376chr7:
140507849-140507849
TCexonicDe novononsynonymous SNVNM_004333c.A622Gp.I208V12.918.255E-6Fu2022 E
Trost2022 G
Zhou2022 GE
BRAF     AU3782302 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
BRAF     AU3782302 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
BRAF     SP0102270chr7:
140481398-140481398
TGexonicDe novosynonymous SNVNM_004333c.A1410Cp.T470T10.29-Fu2022 E
Zhou2022 GE
BRAF     SP0068911chr7:
140481451-140481451
GCexonicDe novononsynonymous SNVNM_004333c.C1357Gp.P453A18.448.24E-6Fu2022 E
Trost2022 G
Zhou2022 GE
BRAF     7-0354-004chr7:
140599155-140599155
TCintronicDe novo--Trost2022 G
BRAF     2-0135-003chr7:
140570996-140571000
CGCGCGGTGAintronicDe novo--Trost2022 G
BRAF     Mahjani2021:40chr7:
140434522-140434522
GAexonicnonsynonymous SNVNM_004333c.C2176Tp.R726C32.0-Mahjani2021 E
BRAF     2-0135-003chr7:
140571004-140571007
TACTGTGintronicDe novo--Trost2022 G
BRAF     MSSNG00334-004chr7:
140524923-140524923
CTintronicDe novo--Trost2022 G
BRAF     MSSNG00133-003chr7:
140567464-140567464
AGintronicDe novo--Trost2022 G
BRAF     DEASD_0164_001chr7:
140481409-140481409
ACexonicDe novo, Unknownnonsynonymous SNVNM_004333c.T1399Gp.S467A19.26-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
BRAF     2-1690-003chr7:
140457297-140457297
CTintronicDe novo--Yuen2017 G
BRAF     AU2836301chr7:
140624469-140624469
GAexonicnonsynonymous SNVNM_004333c.C35Tp.A12V13.73-Zhou2022 GE
BRAF     7-0055-003chr7:
140467372-140467372
GAintronicDe novo--Trost2022 G
Yuen2017 G
BRAF     Hu2022:9chr7:
140453146-140453146
GCexonicUnknownnonsynonymous SNVNM_004333c.C1789Gp.L597V17.26-Hu2022 T
BRAF     AU002405chr7:
140578162-140578162
TCintronicDe novo--Trost2022 G
Yuen2017 G
BRAF     08C77381chr7:
140624469-140624469
GAexonicDe novononsynonymous SNVNM_004333c.C35Tp.A12V13.73-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
BRAF     Mahjani2021:54chr7:
140476813-140476813
CAexonicnonsynonymous SNVNM_004333c.G1593Tp.W531C23.8-Mahjani2021 E
BRAF     AU3760301chr7:
140576567-140576567
GTintronicDe novo--Trost2022 G
Yuen2017 G
BRAF     SF0068911.p1chr7:
140481451-140481451
GCexonicnonsynonymous SNVNM_004333c.C1357Gp.P453A18.448.24E-6Wang2020 T
BRAF     SanDiego_X5Z6Echr7:
140476733-140476733
CTexonicUnknownnonsynonymous SNVNM_004333c.G1673Ap.R558Q36.0-Wang2020 T
BRAF     7-0179-003chr7:
140645285-140645306
CTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTintergenicDe novo--Yuen2017 G
BRAF     SanDiego_H5Z7Ychr7:
140439727-140439727
CTexonicUnknownnonsynonymous SNVNM_004333c.G2012Ap.R671Q35.08.327E-6Wang2020 T
BRAF     SF0044376.p1chr7:
140507849-140507849
TCexonicnonsynonymous SNVNM_004333c.A622Gp.I208V12.918.255E-6Wang2020 T
BRAF     7-0100-003chr7:
140673074-140673074
GAintergenicDe novo--Yuen2017 G
BRAF     Leuven_410451chr7:
140476854-140476854
CAexonicUnknownnonsynonymous SNVNM_004333c.G1552Tp.G518C32.0-Wang2020 T
BRAF     SanDiego_G9P3Xchr7:
140501320-140501320
CTexonicUnknownnonsynonymous SNVNM_004333c.G752Ap.C251Y19.58-Wang2020 T
Source Variant Information

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Source:

Paper alias:

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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
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