SMARCA4 c.3010C>T ;(p.Q1004*)

Variant ID: 19-11135043-C-T

NM_003072.3(SMARCA4):c.3010C>T;(p.Q1004*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications
Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL
Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: Q1004*
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
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Germline mutations of SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type and in SMARCA4-deficient undifferentiated uterine sarcoma: Clinical features of a single family and comparison of large cohorts.

Gynecologic Oncology
Connor, Yamicia D YD; Miao, Diana D; Lin, Douglas I DI; Hayne, Cynthia C; Howitt, Brooke E BE; Dalrymple, John L JL; DeLeonardis, Kimberly R KR; Hacker, Michele R MR; Esselen, Katharine M KM; Shea, Meghan M
Publication Date: 2020-04

Variant appearance in text: SMARCA4: Gln1004*
PubMed Link: 31954538
Variant Present in the following documents:
  • Main text
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