APC c.743A>G ;(p.N248S)

Variant ID: 5-112136989-A-G

NM_000038.5(APC):c.743A>G;(p.N248S)

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:

Structural insights into thyroid hormone transport mechanisms of the L-type amino acid transporter 2.

Molecular Endocrinology (Baltimore, Md.)
Hinz, Katrin M KM; Meyer, Katja K; Kinne, Anita A; Schülein, Ralf R; Köhrle, Josef J; Krause, Gerd G
Publication Date: 2015-06

Variant appearance in text: APC: N248S
PubMed Link: 25945809
Variant Present in the following documents:
  • Main text
View BVdb publication page