JAK2 c.2374C>T ;(p.P792S)

Variant ID: 9-5080623-C-T

NM_004972.3(JAK2):c.2374C>T;(p.P792S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Nature Communications
Klammt, Jürgen J; Neumann, David D; Gevers, Evelien F EF; Andrew, Shayne F SF; Schwartz, I David ID; Rockstroh, Denise D; Colombo, Roberto R; Sanchez, Marco A MA; Vokurkova, Doris D; Kowalczyk, Julia J; Metherell, Louise A LA; Rosenfeld, Ron G RG; Pfäffle, Roland R; Dattani, Mehul T MT; Dauber, Andrew A; Hwa, Vivian V
Publication Date: 2018-05-29

Variant appearance in text: JAK2: 2374C>T; Pro792Ser
PubMed Link: 29844444
Variant Present in the following documents:
  • Main text
  • 41467_2018_4521_MOESM1_ESM.pdf
  • 41467_2018_Article_4521.pdf
  • 41467_2018_4521_MOESM2_ESM.pdf
View BVdb publication page