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.




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