Bibliome.ai browser hg19
Search
About
Stats
FAQ
HR c.734G>T ;(p.R245L)
Variant ID: 8-21985221-C-A
NM_005144.4(
HR
):c.734G>T;(p.R245L)
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:
[Clinical analyses of 50 cases of myelodysplastic syndrome with deletion of chromosome 5q].
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
He, Y Y; Du, X X; Weng, J Y JY; Deng, C X CX; Geng, S X SX; Lu, Z S ZS; Li, M M MM; Liao, P J PJ; Luo, C W CW; Wu, S J SJ; Zhong, L Y LY
Publication Date: 2017-02-14
Variant appearance in text: HR: 734G>T
PubMed Link:
28279041
Variant Present in the following documents:
Main text
View BVdb publication page
Structural analysis of Notch-regulating Rumi reveals basis for pathogenic mutations.
Nature Chemical Biology
Yu, Hongjun H; Takeuchi, Hideyuki H; Takeuchi, Megumi M; Liu, Qun Q; Kantharia, Joshua J; Haltiwanger, Robert S RS; Li, Huilin H
Publication Date: 2016-09
Variant appearance in text: HR: R245L
PubMed Link:
27428513
Variant Present in the following documents:
nihms787740.pdf
View BVdb publication page