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JAK2 c.1634_1635delinsGT ;(p.L545C)
Variant ID: 9-5070045-TG-GT
NM_004972.3(
JAK2
):c.1634_1635delinsGT;(p.L545C)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Cysteine cross-linking in native membranes establishes the transmembrane architecture of Ire1.
The Journal Of Cell Biology
Väth, Kristina K; Mattes, Carsten C; Reinhard, John J; Covino, Roberto R; Stumpf, Heike H; Hummer, Gerhard G; Ernst, Robert R
Publication Date: 2021-08-02
Variant appearance in text: JAK2: L545C
PubMed Link:
34196665
Variant Present in the following documents:
JCB_202011078.pdf
View BVdb publication page