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CALR c.950A>C ;(p.D317A)
Variant ID: 19-13051691-A-C
NM_004343.3(
CALR
):c.950A>C;(p.D317A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
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dbSNP
Publications:
Defining the requirements for the pathogenic interaction between mutant calreticulin and MPL in MPN.
Blood
Elf, Shannon S; Abdelfattah, Nouran S NS; Baral, April J AJ; Beeson, Danielle D; Rivera, Jeanne F JF; Ko, Amy A; Florescu, Natalie N; Birrane, Gabriel G; Chen, Edwin E; Mullally, Ann A
Publication Date: 2018-02-15
Variant appearance in text: CALR: D317A
PubMed Link:
29288169
Variant Present in the following documents:
Main text
View BVdb publication page
Contributions of the Lectin and Polypeptide Binding Sites of Calreticulin to Its Chaperone Functions in Vitro and in Cells.
The Journal Of Biological Chemistry
Lum, Ronnie R; Ahmad, Samar S; Hong, Seo Jung SJ; Chapman, Daniel C DC; Kozlov, Guennadi G; Williams, David B DB
Publication Date: 2016-09-09
Variant appearance in text: CRT: D317A
PubMed Link:
27413183
Variant Present in the following documents:
Main text
View BVdb publication page
Delineation of the lectin site of the molecular chaperone calreticulin.
Cell Stress & Chaperones
Thomson, Sten P SP; Williams, David B DB
Publication Date: 2005
Variant appearance in text: CRT: D317A
PubMed Link:
16184769
Variant Present in the following documents:
Main text
View BVdb publication page