PKD1 c.11246T>C ;(p.L3749P)

Variant ID: 16-2142504-A-G

NM_001009944.2(PKD1):c.11246T>C;(p.L3749P)

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:

Extracellular Loops Are Essential for the Assembly and Function of Polycystin Receptor-Ion Channel Complexes.

The Journal Of Biological Chemistry
Salehi-Najafabadi, Zahra Z; Li, Bin B; Valentino, Victoria V; Ng, Courtney C; Martin, Hannah H; Yu, Yang Y; Wang, Zhifei Z; Kashyap, Parul P; Yu, Yong Y
Publication Date: 2017-03-10

Variant appearance in text: PKD1: L3749P
PubMed Link: 28154010
Variant Present in the following documents:
  • Main text
View BVdb publication page