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MUC2 c.1408G>A ;(p.E470K)
Variant ID: 11-1081112-G-A
NM_002457.2(
MUC2
):c.1408G>A;(p.E470K)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Clinical characteristics and genetic analysis of a Chinese pedigree of type 2 diabetes complicated with interstitial lung disease.
Frontiers In Endocrinology
Zhang, Qinghua Q; Wang, Yan Y; Tian, Chang C; Yu, Jinyan J; Li, Yanlei Y; Yang, Junling J
Publication Date: 2022
Variant appearance in text: rs41345745
PubMed Link:
36733806
Variant Present in the following documents:
Main text
fendo-13-1050200.pdf
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: rs41345745
PubMed Link:
28690861
Variant Present in the following documents:
hgv201727-s1.xls, sheet 1
View BVdb publication page
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013
Variant appearance in text: rs41345745
PubMed Link:
23819521
Variant Present in the following documents:
1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page