HP c.496C>T ;(p.H166Y)

Variant ID: 16-72094064-C-T

NM_005143.3(HP):c.496C>T;(p.H166Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.

Human Mutation
Lemos, Manuel C MC; Thakker, Rajesh V RV
Publication Date: 2015-01

Variant appearance in text: HP: 496C>T
PubMed Link: 25219572
Variant Present in the following documents:
  • humu0036-0011-sd1.pdf
View BVdb publication page



Optimization of the in-silico-designed kemp eliminase KE70 by computational design and directed evolution.

Journal Of Molecular Biology
Khersonsky, Olga O; Röthlisberger, Daniela D; Wollacott, Andrew M AM; Murphy, Paul P; Dym, Orly O; Albeck, Shira S; Kiss, Gert G; Houk, K N KN; Baker, David D; Tawfik, Dan S DS
Publication Date: 2011-04-01

Variant appearance in text: HP: His166Tyr
PubMed Link: 21277311
Variant Present in the following documents:
  • Main text
View BVdb publication page