JAK2 c.2434G>T ;(p.D812Y)

Variant ID: 9-5080683-G-T

NM_004972.3(JAK2):c.2434G>T;(p.D812Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Science Advances
Abelson, Sagi S; Zeng, Andy G X AGX; Nofech-Mozes, Ido I; Wang, Ting Ting TT; Ng, Stanley W K SWK; Minden, Mark D MD; Pugh, Trevor J TJ; Awadalla, Philip P; Shlush, Liran I LI; Murphy, Tracy T; Chan, Steven M SM; Dick, John E JE; Bratman, Scott V SV
Publication Date: 2020-12

Variant appearance in text: JAK2: D812Y
PubMed Link: 33298453
Variant Present in the following documents:
  • abe3722_Table_S3.xlsx, sheet 5
  • abe3722_Table_S3.xlsx, sheet 3
View BVdb publication page



Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens.

The Journal Of Molecular Diagnostics : Jmd
Pritchard, Colin C CC; Salipante, Stephen J SJ; Koehler, Karen K; Smith, Christina C; Scroggins, Sheena S; Wood, Brent B; Wu, David D; Lee, Ming K MK; Dintzis, Suzanne S; Adey, Andrew A; Liu, Yajuan Y; Eaton, Keith D KD; Martins, Renato R; Stricker, Kari K; Margolin, Kim A KA; Hoffman, Noah N; Churpek, Jane E JE; Tait, Jonathan F JF; King, Mary-Claire MC; Walsh, Tom T
Publication Date: 2014-01

Variant appearance in text: JAK2: D812Y
PubMed Link: 24189654
Variant Present in the following documents:
  • Main text
View BVdb publication page