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NELFA c.635-64A>G
Variant ID: 4-1988193-T-C
NM_005663.5(
NELFA
):c.635-64A>G
This variant was identified in 11 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: rs1077020
PubMed Link:
36467812
Variant Present in the following documents:
JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page
Association between single-nucleotide polymorphisms in miRNA and breast cancer risk: an updated review.
Biological Research
Arancibia, Trinidad T; Morales-Pison, Sebastian S; Maldonado, Edio E; Jara, Lilian L
Publication Date: 2021-08-28
Variant appearance in text: rs1077020
PubMed Link:
34454612
Variant Present in the following documents:
Main text
40659_2021_Article_349.pdf
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: rs1077020
PubMed Link:
34054912
Variant Present in the following documents:
Table_2.xlsx, sheet 1
View BVdb publication page
Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.
Bmc Genomics
Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM
Publication Date: 2020-11-30
Variant appearance in text: rs1077020
PubMed Link:
33256598
Variant Present in the following documents:
12864_2020_7222_MOESM2_ESM.xlsx, sheet 17
12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
12864_2020_7222_MOESM2_ESM.xlsx, sheet 19
12864_2020_7222_MOESM2_ESM.xlsx, sheet 22
12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
12864_2020_7222_MOESM2_ESM.xlsx, sheet 4
12864_2020_7222_MOESM2_ESM.xlsx, sheet 20
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: rs1077020
PubMed Link:
30319441
Variant Present in the following documents:
Table_7.xlsx, sheet 1
Table_6.xlsx, sheet 1
View BVdb publication page
Polymorphism rs2682818 in miR-618 is associated with colorectal cancer susceptibility in a Han Chinese population.
Cancer Medicine
Chen, Yuetong Y; Du, Mulong M; Chen, Wei W; Zhu, Lingjun L; Wu, Congye C; Zhang, Zhengdong Z; Wang, Meilin M; Chu, Haiyan H; Gu, Dongying D; Chen, Jinfei J
Publication Date: 2018-04
Variant appearance in text: rs1077020
PubMed Link:
29533012
Variant Present in the following documents:
Main text
CAM4-7-1194.pdf
View BVdb publication page
Association of Genetic Variants of Small Non-Coding RNAs with Survival in Colorectal Cancer.
International Journal Of Medical Sciences
Pao, Jiunn-Bey JB; Lu, Te-Ling TL; Ting, Wen-Chien WC; Chen, Lu-Min LM; Bao, Bo-Ying BY
Publication Date: 2018
Variant appearance in text: rs1077020
PubMed Link:
29483812
Variant Present in the following documents:
Main text
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: rs1077020
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page
The evolution of Homo sapiens denisova and Homo sapiens neanderthalensis miRNA targeting genes in the prenatal and postnatal brain.
Bmc Genomics
Gunbin, Konstantin V KV; Afonnikov, Dmitry A DA; Kolchanov, Nikolay A NA; Derevianko, Anatoly P AP; Rogaev, Eugeny I EI
Publication Date: 2015
Variant appearance in text: rs1077020
PubMed Link:
26693966
Variant Present in the following documents:
Main text
1471-2164-16-S13-S4.pdf
View BVdb publication page
There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population.
Plos One
Ma, Fei F; Zhang, Ping P; Lin, Dongxin D; Yu, Dianke D; Yuan, Peng P; Wang, Jiayu J; Fan, Yin Y; Xu, Binghe B
Publication Date: 2013
Variant appearance in text: rs1077020
PubMed Link:
23555923
Variant Present in the following documents:
Main text
pone.0060195.pdf
View BVdb publication page
Comprehensive analysis of the impact of SNPs and CNVs on human microRNAs and their regulatory genes.
Rna Biology
Duan, Shiwei S; Mi, Shuangli S; Zhang, Wei W; Dolan, M Eileen ME
Publication Date: 2009
Variant appearance in text: rs1077020
PubMed Link:
19458495
Variant Present in the following documents:
Main text
View BVdb publication page