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SCN5A c.340_342delinsAAG ;(p.L114K)
Variant ID: 3-38671852-GAG-CTT
NM_000335.4(
SCN5A
):c.340_342delinsAAG;(p.L114K)
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:
Multiple protein domains mediate interaction between Bcl10 and MALT1.
The Journal Of Biological Chemistry
Langel, Felicia D FD; Jain, Nidhi A NA; Rossman, Jeremy S JS; Kingeter, Lara M LM; Kashyap, Anuj K AK; Schaefer, Brian C BC
Publication Date: 2008-11-21
Variant appearance in text: ICCD: L114K
PubMed Link:
18806265
Variant Present in the following documents:
Main text
View BVdb publication page