FRK c.944A>G ;(p.Q315R)

Variant ID: 6-116277629-T-C

NM_002031.2(FRK):c.944A>G;(p.Q315R)

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:

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Noel, Sekoni D SD; Abreu, Ana Paula AP; Xu, Shuyun S; Muyide, Titilayo T; Gianetti, Elena E; Tusset, Cintia C; Carroll, Jessica J; Latronico, Ana Claudia AC; Seminara, Stephanie B SB; Carroll, Rona S RS; Kaiser, Ursula B UB
Publication Date: 2014-04

Variant appearance in text: RAK: 944A>G
PubMed Link: 24376026
Variant Present in the following documents:
  • Main text
View BVdb publication page