GDF2 c.328_330delinsTGT ;(p.R110C)

Variant ID: 10-48416364-CCG-ACA

NM_016204.1(GDF2):c.328_330delinsTGT;(p.R110C)

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:

Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.

Frontiers In Molecular Biosciences
Gariballa, Nesrin N; Ali, Bassam R BR
Publication Date: 2020

Variant appearance in text: BMP9: R110C
PubMed Link: 33195419
Variant Present in the following documents:
  • Main text
View BVdb publication page