PC c.1153_1155delinsTGA ;(p.R385*)

Variant ID: 11-66633688-GCG-TCA

NM_001040716.1(PC):c.1153_1155delinsTGA;(p.R385*)

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:

Pro-protein convertases control the maturation and processing of the iron-regulatory protein, RGMc/hemojuvelin.

Bmc Biochemistry
Kuninger, David D; Kuns-Hashimoto, Robin R; Nili, Mahta M; Rotwein, Peter P
Publication Date: 2008-04-02

Variant appearance in text: PC: R385X
PubMed Link: 18384687
Variant Present in the following documents:
  • Main text
  • 1471-2091-9-9.pdf
View BVdb publication page