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ALK c.3572C>A ;(p.P1191H)
Variant ID: 2-29443645-G-T
NM_004304.4(
ALK
):c.3572C>A;(p.P1191H)
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:
Identification of pathogenic missense mutations using protein stability predictors.
Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21
Variant appearance in text: ALK: P1191H
PubMed Link:
32958805
Variant Present in the following documents:
41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
TAPES: A tool for assessment and prioritisation in exome studies.
Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10
Variant appearance in text: ALK: P1191H; rs1060500210
PubMed Link:
31613886
Variant Present in the following documents:
pcbi.1007453.s004.xlsx, sheet 4
pcbi.1007453.s002.xlsx, sheet 1
pcbi.1007453.s004.xlsx, sheet 2
pcbi.1007453.s004.xlsx, sheet 7
View BVdb publication page