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ULK4 c.1288-9A>C
Variant ID: 3-41939993-T-G
NM_017886.2(
ULK4
):c.1288-9A>C
This variant was identified in 9 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.
Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11
Variant appearance in text: rs1625226
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.
Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021
Variant appearance in text: rs1625226
PubMed Link:
34054912
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.
Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021
Variant appearance in text: rs1625226
PubMed Link:
33791233
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.
Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09
Variant appearance in text: rs1625226
PubMed Link:
32529721
Variant Present in the following documents:
JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page
Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.
Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11
Variant appearance in text: rs1625226
PubMed Link:
32046637
Variant Present in the following documents:
12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22
Variant appearance in text: rs1625226
PubMed Link:
31640808
Variant Present in the following documents:
13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018
Variant appearance in text: rs1625226
PubMed Link:
30319441
Variant Present in the following documents:
Table_5.xlsx, sheet 1
Table_6.xlsx, sheet 1
Table_7.xlsx, sheet 1
View BVdb publication page
Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity.
Stem Cell Reports
Kubara, Kenji K; Yamazaki, Kazuto K; Ishihara, Yasuharu Y; Naruto, Takuya T; Lin, Huan-Ting HT; Nishimura, Ken K; Ohtaka, Manami M; Nakanishi, Mahito M; Ito, Masashi M; Tsukahara, Kappei K; Morio, Tomohiro T; Takagi, Masatoshi M; Otsu, Makoto M
Publication Date: 2018-08-14
Variant appearance in text: rs1625226
PubMed Link:
29983389
Variant Present in the following documents:
mmc2.xlsx, sheet 2
View BVdb publication page
Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.
Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017
Variant appearance in text: rs1625226
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page