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INPP5B c.136G>A ;(p.G46S)
Variant ID: 1-38411444-C-T
NM_005540.2(
INPP5B
):c.136G>A;(p.G46S)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
SMAP is a pipeline for sample matching in proteogenomics.
Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08
Variant appearance in text: INPP5B: G46S
PubMed Link:
35136070
Variant Present in the following documents:
41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
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: rs56993041
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
GESPA: classifying nsSNPs to predict disease association.
Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25
Variant appearance in text: INPP5B: G46S
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page
Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers.
Human Mutation
Lalli, Matthew A MA; Garcia, Gloria G; Madrigal, Lucia L; Arcos-Burgos, Mauricio M; Arcila, Mary Luz ML; Kosik, Kenneth S KS; Lopera, Francisco F
Publication Date: 2012-12
Variant appearance in text: INPP5B: 136G>A; Gly46Ser
PubMed Link:
22829467
Variant Present in the following documents:
Main text
View BVdb publication page