MYOC c.1001T>C ;(p.L334P)

Variant ID: 1-171605579-A-G

NM_000261.1(MYOC):c.1001T>C;(p.L334P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: MYOC: L334P
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: MYOC: L334P
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-7.xlsx, sheet 1
View BVdb publication page



Contributions of MYOC and CYP1B1 mutations to JOAG.

Molecular Vision
Bayat, Behnaz B; Yazdani, Shahin S; Alavi, Afagh A; Chiani, Mohsen M; Chitsazian, Fereshteh F; Tusi, Betsabeh Khoramian BK; Suri, Fatemeh F; Narooie-Nejhad, Mehrnaz M; Sanati, Mohammad H MH; Elahi, Elahe E
Publication Date: 2008-03-13

Variant appearance in text: MYOC: 1001T>C; L334P
PubMed Link: 18385784
Variant Present in the following documents:
  • Main text
  • mv-v14-508.pdf
View BVdb publication page