FCHSD2 c.*462G>T

Variant ID: 11-72549374-C-A

NM_014824.2(FCHSD2):c.*462G>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs76762469
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



A common functional regulatory variant at a type 2 diabetes locus upregulates ARAP1 expression in the pancreatic beta cell.

American Journal Of Human Genetics
Kulzer, Jennifer R JR; Stitzel, Michael L ML; Morken, Mario A MA; Huyghe, Jeroen R JR; Fuchsberger, Christian C; Kuusisto, Johanna J; Laakso, Markku M; Boehnke, Michael M; Collins, Francis S FS; Mohlke, Karen L KL
Publication Date: 2014-02-06

Variant appearance in text: rs76762469
PubMed Link: 24439111
Variant Present in the following documents:
  • Main text
View BVdb publication page