FRY c.6542A>G ;(p.K2181R)

Variant ID: 13-32813873-A-G

NM_023037.2(FRY):c.6542A>G;(p.K2181R)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Whole genome sequencing identifies variants associated with sarcoidosis in a family with a high prevalence of sarcoidosis.

Clinical Rheumatology
Fritz, Daan D; Ferwerda, Bart B; Brouwer, Matthijs C MC; van de Beek, Diederik D
Publication Date: 2021-09

Variant appearance in text: rs193120945
PubMed Link: 33903979
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: FRY: 6542A>G; K2181R; rs193120945
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: FRY: K2181R
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Plos One
Strom, Samuel P SP; Clark, Michael J MJ; Martinez, Ariadna A; Garcia, Sarah S; Abelazeem, Amira A AA; Matynia, Anna A; Parikh, Sachin S; Sullivan, Lori S LS; Bowne, Sara J SJ; Daiger, Stephen P SP; Gorin, Michael B MB
Publication Date: 2016

Variant appearance in text: FRY: K2181R
PubMed Link: 26964041
Variant Present in the following documents:
  • pone.0150944.s002.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: FRY: K2181R
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Genome Medicine
Alakus, Hakan H; Babicky, Michele L ML; Ghosh, Pradipta P; Yost, Shawn S; Jepsen, Kristen K; Dai, Yang Y; Arias, Angelo A; Samuels, Michael L ML; Mose, Evangeline S ES; Schwab, Richard B RB; Peterson, Michael R MR; Lowy, Andrew M AM; Frazer, Kelly A KA; Harismendy, Olivier O
Publication Date: 2014

Variant appearance in text: FRY: K2181R
PubMed Link: 24944587
Variant Present in the following documents:
  • gm559-S3.xls, sheet 5
View BVdb publication page