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SCN1A c.1592G>A ;(p.R531K)
Variant ID: 2-166901623-C-T
NM_001165963.1(
SCN1A
):c.1592G>A;(p.R531K)
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:
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Signal Transduction And Targeted Therapy
Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F
Publication Date: 2022-01-03
Variant appearance in text: SCN1A: 1592G>A; Arg531Lys
PubMed Link:
34980881
Variant Present in the following documents:
41392_2021_710_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Signal Transduction And Targeted Therapy
Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F
Publication Date: 2022-01-03
Variant appearance in text: SCN1A: 1592G>A; Arg531Lys
PubMed Link:
34980881
Variant Present in the following documents:
41392_2021_710_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page