CALR c.379_381delinsTGT ;(p.E127C)

Variant ID: 19-13050427-GAA-TGT

NM_004343.3(CALR):c.379_381delinsTGT;(p.E127C)

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:

Amyloidogenic and non-amyloidogenic transthyretin variants interact differently with human cardiomyocytes: insights into early events of non-fibrillar tissue damage.

Bioscience Reports
Manral, Pallavi P; Reixach, Natàlia N
Publication Date: 2015-01-14

Variant appearance in text: SSA: E127C
PubMed Link: 25395306
Variant Present in the following documents:
  • Main text
  • bsr035e172.pdf
View BVdb publication page