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RARA c.977C>G ;(p.T326R)
Variant ID: 17-38510723-C-G
NM_000964.3(
RARA
):c.977C>G;(p.T326R)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Nature Communications
Shen, Ying Y; Zhang, Feng F; Li, Fuping F; Jiang, Xiaohui X; Yang, Yihong Y; Li, Xiaoliang X; Li, Weiyu W; Wang, Xiang X; Cheng, Juan J; Liu, Mohan M; Zhang, Xueguang X; Yuan, Guiping G; Pei, Xue X; Cai, Kailai K; Hu, Fengyun F; Sun, Jianfeng J; Yan, Lanzhen L; Tang, Li L; Jiang, Chuan C; Tu, Wenling W; Xu, Jinyan J; Wu, Haojuan H; Kong, Weiqi W; Li, Shuying S; Wang, Ke K; Sheng, Kai K; Zhao, Xudong X; Yue, Huanxun H; Yang, Xiaoyu X; Xu, Wenming W
Publication Date: 2019-01-25
Variant appearance in text: RARA: T326R
PubMed Link:
30683861
Variant Present in the following documents:
41467_2018_8182_MOESM10_ESM.xls, sheet 1
View BVdb publication page