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CABIN1 c.673G>T ;(p.D225Y)
Variant ID: 22-24447303-G-T
NM_012295.3(
CABIN1
):c.673G>T;(p.D225Y)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs17004823
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015
Variant appearance in text: rs17004823
PubMed Link:
25905921
Variant Present in the following documents:
pone.0123569.s008.xls, sheet 2
pone.0123569.s008.xls, sheet 11
pone.0123569.s008.xls, sheet 6
View BVdb publication page