HP c.251C>T ;(p.P84L)

Variant ID: 16-72091351-C-T

NM_005143.3(HP):c.251C>T;(p.P84L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics
Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N
Publication Date: 2023-01-26

Variant appearance in text: HP: 251C>T
PubMed Link: 36703207
Variant Present in the following documents:
  • 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: HP: 251C>T
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
  • mmc5.xlsx, sheet 1
View BVdb publication page



Synthesis and characterization of the arylomycin lipoglycopeptide antibiotics and the crystallographic analysis of their complex with signal peptidase.

Journal Of The American Chemical Society
Liu, Jian J; Luo, Chuanyun C; Smith, Peter A PA; Chin, Jodie K JK; Page, Malcolm G P MG; Paetzel, Mark M; Romesberg, Floyd E FE
Publication Date: 2011-11-09

Variant appearance in text: HP: P84L
PubMed Link: 21999324
Variant Present in the following documents:
  • Main text
View BVdb publication page