GDF5 c.1312_1313delinsGC ;(p.R438A)

Variant ID: 20-34021900-CG-GC

NM_000557.2(GDF5):c.1312_1313delinsGC;(p.R438A)

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:

Repulsive guidance molecules lock growth differentiation factor 5 in an inhibitory complex.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Malinauskas, Tomas T; Peer, Tina V TV; Bishop, Benjamin B; Mueller, Thomas D TD; Siebold, Christian C
Publication Date: 2020-07-07

Variant appearance in text: GDF5: Arg438Ala
PubMed Link: 32576689
Variant Present in the following documents:
  • Main text
  • pnas.2000561117.sapp.pdf
View BVdb publication page