STX4 c.761G>A ;(p.R254H)

Variant ID: 16-31050920-G-A

NM_004604.4(STX4):c.761G>A;(p.R254H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.

Blood Advances
Witte, Hanno M HM; Künstner, Axel A; Hertel, Nadine N; Bernd, Heinz-Wolfram HW; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; von Bubnoff, Nikolas N; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-01-25

Variant appearance in text: STX4: R254H; rs200786971
PubMed Link: 34714908
Variant Present in the following documents:
  • advancesADV2021005486-suppl6.xlsx, sheet 1
View BVdb publication page



Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

American Journal Of Human Genetics
Need, Anna C AC; McEvoy, Joseph P JP; Gennarelli, Massimo M; Heinzen, Erin L EL; Ge, Dongliang D; Maia, Jessica M JM; Shianna, Kevin V KV; He, Min M; Cirulli, Elizabeth T ET; Gumbs, Curtis E CE; Zhao, Qian Q; Campbell, C Ryan CR; Hong, Linda L; Rosenquist, Peter P; Putkonen, Anu A; Hallikainen, Tero T; Repo-Tiihonen, Eila E; Tiihonen, Jari J; Levy, Deborah L DL; Meltzer, Herbert Y HY; Goldstein, David B DB
Publication Date: 2012-08-10

Variant appearance in text: STX4: 761G>A; Arg254His
PubMed Link: 22863191
Variant Present in the following documents:
  • Main text
View BVdb publication page