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SMARCA4 c.4650C>G ;(p.S1550=)
Variant ID: 19-11170443-C-G
NM_003072.3(
SMARCA4
):c.4650C>G;(p.S1550=)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Inositol polyphosphate multikinase physically binds to the SWI/SNF complex and modulates BRG1 occupancy in mouse embryonic stem cells.
Elife
Beon, Jiyoon J; Han, Sungwook S; Yang, Hyeokjun H; Park, Seung Eun SE; Hyun, Kwangbeom K; Lee, Song-Yi SY; Rhee, Hyun-Woo HW; Seo, Jeong Kon JK; Kim, Jaehoon J; Kim, Seyun S; Lee, Daeyoup D
Publication Date: 2022-05-12
Variant appearance in text: BRG1: S1550S
PubMed Link:
35551737
Variant Present in the following documents:
Main text
elife-73523.pdf
View BVdb publication page
Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.
Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021
Variant appearance in text: SMARCA4: S1550S
PubMed Link:
34887858
Variant Present in the following documents:
Table_3.xlsx, sheet 1
View BVdb publication page
CHD4 Conceals Aberrant CTCF-Binding Sites at TAD Interiors by Regulating Chromatin Accessibility in Mouse Embryonic Stem Cells.
Molecules And Cells
Han, Sungwook S; Lee, Hosuk H; Lee, Andrew J AJ; Kim, Seung-Kyoon SK; Jung, Inkyung I; Koh, Gou Young GY; Kim, Tae-Kyung TK; Lee, Daeyoup D
Publication Date: 2021-11-30
Variant appearance in text: BRG1: S1550S
PubMed Link:
34764232
Variant Present in the following documents:
Main text
molce-44-11-805.pdf
View BVdb publication page
Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.
Neuro-Oncology Advances
Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, ChloƩ C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF
Publication Date: 2020
Variant appearance in text: SMARCA4: S1550S
PubMed Link:
32904945
Variant Present in the following documents:
vdaa088_suppl_supplementary_tables.xlsx, sheet 2
View BVdb publication page