CALR c.142_143delinsGC ;(p.K48A)

Variant ID: 19-13049998-AA-GC

NM_004343.3(CALR):c.142_143delinsGC;(p.K48A)

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:

A serine protease secreted from Bacillus subtilis cleaves human plasma transthyretin to generate an amyloidogenic fragment.

Communications Biology
Peterle, Daniele D; Pontarollo, Giulia G; Spada, Stefano S; Brun, Paola P; Palazzi, Luana L; Sokolov, Alexej V AV; Spolaore, Barbara B; Polverino de Laureto, Patrizia P; Vasilyev, Vadim B VB; Castagliuolo, Ignazio I; De Filippis, Vincenzo V
Publication Date: 2020-12-11

Variant appearance in text: SSA: Lys48Ala
PubMed Link: 33311636
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1493.pdf
View BVdb publication page