MUC4 c.14461G>A ;(p.A4821T)

Variant ID: 3-195489009-C-T

NM_018406.6(MUC4):c.14461G>A;(p.A4821T)

This variant was identified in 12 publications

View GRCh38 version.




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: rs2246901
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: rs2246901
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs2246901
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Single nucleotide polymorphisms within MUC4 are associated with colorectal cancer survival.

Plos One
Lu, Shun S; Catalano, Calogerina C; Huhn, Stefanie S; Pardini, Barbara B; Partu, Linda L; Vymetalkova, Veronika V; Vodickova, Ludmila L; Levy, Miroslav M; Buchler, Thomas T; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A
Publication Date: 2019

Variant appearance in text: rs2246901
PubMed Link: 31091244
Variant Present in the following documents:
  • Main text
  • pone.0216666.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs2246901
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
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: rs2246901
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genetic variants of mucins: unexplored conundrum.

Carcinogenesis
Kumar, Sushil S; Cruz, Eric E; Joshi, Suhasini S; Patel, Asish A; Jahan, Rahat R; Batra, Surinder K SK; Jain, Maneesh M
Publication Date: 2017-07-01

Variant appearance in text: rs2246901
PubMed Link: 27838635
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2246901
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.

Nature Communications
Corvol, Harriet H; Blackman, Scott M SM; Boëlle, Pierre-Yves PY; Gallins, Paul J PJ; Pace, Rhonda G RG; Stonebraker, Jaclyn R JR; Accurso, Frank J FJ; Clement, Annick A; Collaco, Joseph M JM; Dang, Hong H; Dang, Anthony T AT; Franca, Arianna A; Gong, Jiafen J; Guillot, Loic L; Keenan, Katherine K; Li, Weili W; Lin, Fan F; Patrone, Michael V MV; Raraigh, Karen S KS; Sun, Lei L; Zhou, Yi-Hui YH; O'Neal, Wanda K WK; Sontag, Marci K MK; Levy, Hara H; Durie, Peter R PR; Rommens, Johanna M JM; Drumm, Mitchell L ML; Wright, Fred A FA; Strug, Lisa J LJ; Cutting, Garry R GR; Knowles, Michael R MR
Publication Date: 2015-09-29

Variant appearance in text: rs2246901
PubMed Link: 26417704
Variant Present in the following documents:
  • Main text
  • ncomms9382.pdf
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs2246901
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.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: rs2246901
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



MUC4 gene polymorphisms associate with endometriosis development and endometriosis-related infertility.

Bmc Medicine
Chang, Cherry Yin-Yi CY; Chang, Hui-Wen HW; Chen, Chih-Mei CM; Lin, Chia-Ying CY; Chen, Chih-Ping CP; Lai, Chih-Ho CH; Lin, Wei-Yong WY; Liu, Hsing-Ping HP; Sheu, Jim Jinn-Chyuan JJ; Tsai, Fuu-Jen FJ
Publication Date: 2011-02-24

Variant appearance in text: rs2246901
PubMed Link: 21349170
Variant Present in the following documents:
  • Main text
  • 1741-7015-9-19.pdf
View BVdb publication page