HP c.1006G>C ;(p.E336Q)

Variant ID: 16-72094574-G-C

NM_005143.3(HP):c.1006G>C;(p.E336Q)

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:

Characterization of the connexin45 carboxyl-terminal domain structure and interactions with molecular partners.

Biophysical Journal
Kopanic, Jennifer L JL; Al-mugotir, Mona H MH; Kieken, Fabien F; Zach, Sydney S; Trease, Andrew J AJ; Sorgen, Paul L PL
Publication Date: 2014-05-20

Variant appearance in text: HP: E336Q
PubMed Link: 24853747
Variant Present in the following documents:
  • Main text
View BVdb publication page