Bibliome.ai browser hg19
Search
About
Stats
FAQ
CALR c.512T>C ;(p.L171P)
Variant ID: 19-13051076-T-C
NM_004343.3(
CALR
):c.512T>C;(p.L171P)
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:
Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.
Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019
Variant appearance in text: CALR: 512T>C; Leu171Pro
PubMed Link:
30608972
Variant Present in the following documents:
pone.0210079.s007.xlsx, sheet 20
View BVdb publication page
Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.
Genome Medicine
Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T
Publication Date: 2017-07-18
Variant appearance in text: CALR: L171P
PubMed Link:
28716134
Variant Present in the following documents:
13073_2017_454_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page