HR c.128T>C ;(p.L43P)

Variant ID: 8-21986556-A-G

NM_005144.4(HR):c.128T>C;(p.L43P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: HR: L43P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
View BVdb publication page



Granzyme B is correlated with clinical outcome after PD-1 blockade in patients with stage IV non-small-cell lung cancer.

Journal For Immunotherapy Of Cancer
Hurkmans, Daan P DP; Basak, Edwin A EA; Schepers, Nina N; Oomen-De Hoop, Esther E; Van der Leest, Cor H CH; El Bouazzaoui, Samira S; Bins, Sander S; Koolen, Stijn L W SLW; Sleijfer, Stefan S; Van der Veldt, Astrid A M AAM; Debets, Reno R; Van Schaik, Ron H N RHN; Aerts, Joachim G J V JGJV; Mathijssen, Ron H J RHJ
Publication Date: 2020-05

Variant appearance in text: HR: 128T>C
PubMed Link: 32461348
Variant Present in the following documents:
  • Main text
  • jitc-2020-000586.pdf
  • jitc-2020-000586supp001.pdf
View BVdb publication page



Stabilizing mutations increase secretion of functional soluble TCR-Ig fusion proteins.

Bmc Biotechnology
Lunde, Elin E; Løset, Geir Åge GÅ; Bogen, Bjarne B; Sandlie, Inger I
Publication Date: 2010-08-24

Variant appearance in text: HR: L43P
PubMed Link: 20735812
Variant Present in the following documents:
  • 1472-6750-10-61.pdf
View BVdb publication page



Mutational analysis of Xanthomonas harpin HpaG identifies a key functional region that elicits the hypersensitive response in nonhost plants.

Journal Of Bacteriology
Kim, Jung-Gun JG; Jeon, Eunkyung E; Oh, Jonghee J; Moon, Jae Sun JS; Hwang, Ingyu I
Publication Date: 2004-09

Variant appearance in text: HR: L43P
PubMed Link: 15342594
Variant Present in the following documents:
  • Main text
View BVdb publication page