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EPN3 c.1152dup ;(p.T385Hfs*20)
Variant ID: 17-48618320-G-GC
NM_017957.2(
EPN3
):c.1152dup;(p.T385Hfs*20)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.
Ebiomedicine
Zhang, Xiaoyan X; Yang, Ling L; Lei, Wanjun W; Hou, Qiang Q; Huang, Ming M; Zhou, Rongjing R; Enver, Tariq T; Wu, Shixiu S
Publication Date: 2022-08
Variant appearance in text: EPN3: 1147dupC
PubMed Link:
35785618
Variant Present in the following documents:
mmc1.xlsx, sheet 3
View BVdb publication page
Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.
Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019
Variant appearance in text: EPN3: 1146_1147insC; Thr385fs
PubMed Link:
30608972
Variant Present in the following documents:
pone.0210079.s007.xlsx, sheet 3
View BVdb publication page