KRT12 c.419T>G ;(p.L140R)

Variant ID: 17-39023020-A-C

NM_000223.3(KRT12):c.419T>G;(p.L140R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.

Molecular Vision
Chen, Judy L JL; Lin, Benjamin R BR; Gee, Katherine M KM; Gee, Jessica A JA; Chung, Duk-Won D DW; Frausto, Ricardo F RF; Deng, Sophie X SX; Aldave, Anthony J AJ
Publication Date: 2015

Variant appearance in text: KRT12: 419T>G; Leu140Arg
PubMed Link: 26788030
Variant Present in the following documents:
  • Main text
  • mv-v21-1378.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs58918655
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting.

Gene Therapy
Courtney, D G DG; Moore, J E JE; Atkinson, S D SD; Maurizi, E E; Allen, E H A EH; Pedrioli, D M L DM; McLean, W H I WH; Nesbit, M A MA; Moore, C B T CB
Publication Date: 2016-01

Variant appearance in text: KRT12: L140R
PubMed Link: 26289666
Variant Present in the following documents:
  • gt201582x1.xls, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: KRT12: L140R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



The IC3D classification of the corneal dystrophies.

Cornea
Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK
Publication Date: 2008-12

Variant appearance in text: KRT12: 419T>G; Leu140Arg
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.

Molecular Vision
Szaflik, Jacek P JP; Ołdak, Monika M; Maksym, Radosław B RB; Kamińska, Anna A; Pollak, Agnieszka A; Udziela, Monika M; Płoski, Rafał R; Szaflik, Jerzy J
Publication Date: 2008-09-15

Variant appearance in text: KRT12: L140R
PubMed Link: 18806880
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy.

Molecular Vision
Sullivan, Lori S LS; Baylin, Eric B EB; Font, Ramon R; Daiger, Stephen P SP; Pepose, Jay S JS; Clinch, Thomas E TE; Nakamura, Hisashi H; Zhao, Xinping C XC; Yee, Richard W RW
Publication Date: 2007-06-21

Variant appearance in text: KRT12: L140R
PubMed Link: 17653038
Variant Present in the following documents:
  • Main text
  • mv-v13-975.pdf
View BVdb publication page