SMARCA4 c.4606G>T ;(p.A1536S)

Variant ID: 19-11169536-G-T

NM_003072.3(SMARCA4):c.4606G>T;(p.A1536S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Germline and somatic genetic alterations in two first-degree relatives with appendiceal low-grade mucinous carcinoma peritonei.

Clinical Case Reports
King, Mary Caitlin MC; Munoz-Zuluaga, Carlos C; Ledakis, Panayotis P; Studeman, Kimberley K; Sittig, Michelle M; Gushchin, Vadim V; Sardi, Armando A
Publication Date: 2020-12

Variant appearance in text: SMARCA4: A1536S
PubMed Link: 33363901
Variant Present in the following documents:
  • Main text
  • CCR3-8-3168.pdf
View BVdb publication page



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: A1536S
PubMed Link: 33144586
Variant Present in the following documents:
  • 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page