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EDNRB c.778G>T ;(p.V260F)
Variant ID: 13-78477314-C-A
NM_001122659.2(
EDNRB
):c.778G>T;(p.V260F)
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:
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Acta Neuropathologica Communications
Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N
Publication Date: 2022-03-04
Variant appearance in text: EDNRB: V260F; rs77132068
PubMed Link:
35246273
Variant Present in the following documents:
40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
40478_2022_1333_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
The landscape of somatic mutation in sporadic Chinese colorectal cancer.
Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08
Variant appearance in text: rs77132068
PubMed Link:
29937994
Variant Present in the following documents:
oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16
Variant appearance in text: EDNRB: V260F; rs77132068
PubMed Link:
25352556
Variant Present in the following documents:
supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 18
View BVdb publication page