SCN4B c.*2623A>G

Variant ID: 11-118005119-T-C

NM_174934.3(SCN4B):c.*2623A>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs868344
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs868344
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.

Plos One
Gorlova, Olga Y OY; Li, Yafang Y; Gorlov, Ivan I; Ying, Jun J; Chen, Wei V WV; Assassi, Shervin S; Reveille, John D JD; Arnett, Frank C FC; Zhou, Xiaodong X; Bossini-Castillo, Lara L; Lopez-Isac, Elena E; Acosta-Herrera, Marialbert M; Gregersen, Peter K PK; Lee, Annette T AT; Steen, Virginia D VD; Fessler, Barri J BJ; Khanna, Dinesh D; Schiopu, Elena E; Silver, Richard M RM; Molitor, Jerry A JA; Furst, Daniel E DE; Kafaja, Suzanne S; Simms, Robert W RW; Lafyatis, Robert A RA; Carreira, Patricia P; Simeon, Carmen Pilar CP; Castellvi, Ivan I; Beltran, Emma E; Ortego, Norberto N; Amos, Christopher I CI; Martin, Javier J; Mayes, Maureen D MD
Publication Date: 2018

Variant appearance in text: rs868344
PubMed Link: 29293537
Variant Present in the following documents:
  • Main text
  • pone.0189498.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: rs868344
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 4
View BVdb publication page



A robust protocol to increase NimbleGen SeqCap EZ multiplexing capacity to 96 samples.

Plos One
van der Werf, Ilse M IM; Kooy, R Frank RF; Vandeweyer, Geert G
Publication Date: 2015

Variant appearance in text: rs868344
PubMed Link: 25875648
Variant Present in the following documents:
  • Main text
  • pone.0123872.pdf
View BVdb publication page



Connection between genetic and clinical data in bipolar disorder.

Plos One
Mellerup, Erling E; Andreassen, Ole O; Bennike, Bente B; Dam, Henrik H; Djurovic, Srdjan S; Durovic, Srdjan S; Hansen, Thomas T; Melle, Ingrid I; Møller, Gert Lykke GL; Mors, Ole O; Koefoed, Pernille P
Publication Date: 2012

Variant appearance in text: rs868344
PubMed Link: 23028568
Variant Present in the following documents:
  • Main text
  • pone.0044623.pdf
View BVdb publication page