CALR c.142_143delinsCT ;(p.K48L)

Variant ID: 19-13049998-AA-CT

NM_004343.3(CALR):c.142_143delinsCT;(p.K48L)

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:

The importance of a gatekeeper residue on the aggregation of transthyretin: implications for transthyretin-related amyloidoses.

The Journal Of Biological Chemistry
Sant'Anna, Ricardo R; Braga, Carolina C; Varejão, Nathalia N; Pimenta, Karinne M KM; Graña-Montes, Ricardo R; Alves, Aline A; Cortines, Juliana J; Cordeiro, Yraima Y; Ventura, Salvador S; Foguel, Debora D
Publication Date: 2014-10-10

Variant appearance in text: SSA: K48L
PubMed Link: 25086037
Variant Present in the following documents:
  • Main text
  • zbc28324.pdf
View BVdb publication page