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.




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