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Results for "RANBP2"

Variant Events: 26

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
RANBP2     W7R4Wchr2:
109398656-109398656
CTexonicUnknownnonsynonymous SNVNM_006267c.C8833Tp.R2945W17.96-Stessman2017 T
RANBP2     SSC09405chr2:
109392193-109392197
TCAGATexonicDe novoframeshift deletionNM_006267c.8299_8302delp.Q2767fs--Antaki2022 GE
Fu2022 E
RANBP2     5437chr2:
109388152-109388152
TAintronicDe novo-1.673E-5Fu2022 E
RANBP2     SSC09641chr2:
109384219-109384219
TCexonicDe novosynonymous SNVNM_006267c.T7224Cp.D2408D--Fu2022 E
RANBP2     AU031204chr2:
109369698-109369698
TGintronicDe novo--Yuen2017 G
RANBP2     AU1374302chr2:
109388202-109388202
TAexonicUnknownnonsynonymous SNVNM_006267c.T7895Ap.V2632D23.71.652E-5Stessman2017 T
RANBP2     13520.p1chr2:
109382819-109382819
ATexonicUnknown, De novononsynonymous SNVNM_006267c.A5824Tp.S1942C8.914-Iossifov2014 E
Kosmicki2017 E
Wang2020 T
RANBP2     13760.p1chr2:
109392193-109392197
TCAGATexonicUnknown, De novoframeshift deletionNM_006267c.8299_8302delp.Q2767fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
RANBP2     215-13161-1783chr2:
109399227-109399227
CTexonicPaternalnonsynonymous SNVNM_006267c.C9278Tp.A3093V34.0-Stessman2017 T
RANBP2     SanDiego_W7R4Wchr2:
109398656-109398656
CTexonicUnknownnonsynonymous SNVNM_006267c.C8833Tp.R2945W17.96-Wang2020 T
RANBP2     ACGC_GZ0023.p1chr2:
109397884-109397884
ATexonicMaternalnonsynonymous SNVNM_006267c.A8759Tp.E2920V25.6-Wang2020 T
RANBP2     05C50633chr2:
109397878-109397878
TCexonicUnknownnonsynonymous SNVNM_006267c.T8753Cp.L2918P22.4-Stessman2017 T
RANBP2     08C75155chr2:
109367972-109367972
TGintronicDe novo--Satterstrom2020 E
RANBP2     AU3984301chr2:
109354123-109354123
GAintronicDe novo--Yuen2017 G
RANBP2     14011.p1chr2:
109382788-109382788
GAexonicDe novosynonymous SNVNM_006267c.G5793Ap.K1931K--Krumm2015 E
RANBP2     SP0146580chr2:
109383311-109383311
ATexonicDe novononsynonymous SNVNM_006267c.A6316Tp.M2106L11.7-Fu2022 E
RANBP2     11863.p1chr2:
109388152-109388152
TAintronicDe novo-1.673E-5Krumm2015 E
Satterstrom2020 E
RANBP2     SP0106519chr2:
109352677-109352677
GAexonicDe novononsynonymous SNVNM_006267c.G754Ap.V252M15.25-Fu2022 E
RANBP2     SP0037525chr2:
109352648-109352648
TCexonicDe novononsynonymous SNVNM_006267c.T725Cp.L242P14.4-Fu2022 E
RANBP2     SSC07699chr2:
109382819-109382819
ATexonicDe novononsynonymous SNVNM_006267c.A5824Tp.S1942C8.914-Fu2022 E
Lim2017 E
RANBP2     AGRE_05C50633chr2:
109397878-109397878
TCexonicUnknownnonsynonymous SNVNM_006267c.T8753Cp.L2918P22.4-Wang2020 T
RANBP2     T8W2Wchr2:
109345594-109345594
AGexonicInheritednonsynonymous SNVNM_006267c.A79Gp.M27V9.4151.861E-5Stessman2017 T
RANBP2     AGRE_05C45016chr2:
109388202-109388202
TAexonicUnknownnonsynonymous SNVNM_006267c.T7895Ap.V2632D23.71.652E-5Wang2020 T
RANBP2     SP0141591chr2:
109369843-109369843
GAintronicDe novo--Fu2022 E
RANBP2     ACGC_M19720chr2:
109398674-109398674
ATexonicUnknownstopgainNM_006267c.A8851Tp.K2951X50.0-Wang2020 T
RANBP2     AGRE_08C79457chr2:
109389335-109389335
GAexonicUnknownnonsynonymous SNVNM_006267c.G8125Ap.E2709K35.01.0E-4Wang2020 T
Source Variant Information

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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
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