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CD48 c.205T>C ;(p.W69R)
Variant ID: 1-160654857-A-G
NM_001778.3(
CD48
):c.205T>C;(p.W69R)
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:
Integrative proteogenomic characterization of early esophageal cancer.
Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25
Variant appearance in text: CD48: W69R; rs143226582
PubMed Link:
36966136
Variant Present in the following documents:
41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page
SMAP is a pipeline for sample matching in proteogenomics.
Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08
Variant appearance in text: CD48: W69R
PubMed Link:
35136070
Variant Present in the following documents:
41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.
International Journal Of Medical Sciences
Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q
Publication Date: 2021
Variant appearance in text: CD48: 205T>C; Trp69Arg; rs143226582
PubMed Link:
34104084
Variant Present in the following documents:
ijmsv18p2532s2.xlsx, sheet 1
View BVdb publication page
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
Plos One
Ogata, Tsutomu T; Niihori, Tetsuya T; Tanaka, Noriko N; Kawai, Masahiko M; Nagashima, Takeshi T; Funayama, Ryo R; Nakayama, Keiko K; Nakashima, Shinichi S; Kato, Fumiko F; Fukami, Maki M; Aoki, Yoko Y; Matsubara, Yoichi Y
Publication Date: 2014
Variant appearance in text: CD48: W69R; rs143226582
PubMed Link:
24637876
Variant Present in the following documents:
pone.0091598.s006.pdf
View BVdb publication page