PITX2 c.161T>A ;(p.L54Q)

Variant ID: 4-111543456-A-T

NM_000325.5(PITX2):c.161T>A;(p.L54Q)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.

Plos One
Seifi, Morteza M; Walter, Michael A MA
Publication Date: 2018

Variant appearance in text: PITX2: L54Q
PubMed Link: 29664915
Variant Present in the following documents:
  • Main text
  • pone.0195971.pdf
View BVdb publication page


Homeodomain revisited: a lesson from disease-causing mutations.

Human Genetics
Chi, Young-In YI
Publication Date: 2005-05

Variant appearance in text: PITX2: L54Q
PubMed Link: 15726414
Variant Present in the following documents:
  • Main text
View BVdb publication page