TMEM42 c.18G>C ;(p.G6=)

Variant ID: 3-44903434-G-C

NM_144638.1(TMEM42):c.18G>C;(p.G6=)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: TMEM42: 18G>C; G6G; rs2292181
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: TMEM42: G6G
PubMed Link: 33256598
Variant Present in the following documents:
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
  • 12864_2020_7222_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Comparative and Functional Genomic Resource for Mechanistic Studies of Human Blood Pressure-Associated Single Nucleotide Polymorphisms.

Hypertension (Dallas, Tex. : 1979)
Mishra, Manoj K MK; Liang, Eugene Y EY; Geurts, Aron M AM; Auer, Paul W L PWL; Liu, Pengyuan P; Rao, Sridhar S; Greene, Andrew S AS; Liang, Mingyu M; Liu, Yong Y
Publication Date: 2020-03

Variant appearance in text: rs2292181
PubMed Link: 31902252
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis.

American Journal Of Respiratory And Critical Care Medicine
Allen, Richard J RJ; Guillen-Guio, Beatriz B; Oldham, Justin M JM; Ma, Shwu-Fan SF; Dressen, Amy A; Paynton, Megan L ML; Kraven, Luke M LM; Obeidat, Ma'en M; Li, Xuan X; Ng, Michael M; Braybrooke, Rebecca R; Molina-Molina, Maria M; Hobbs, Brian D BD; Putman, Rachel K RK; Sakornsakolpat, Phuwanat P; Booth, Helen L HL; Fahy, William A WA; Hart, Simon P SP; Hill, Mike R MR; Hirani, Nik N; Hubbard, Richard B RB; McAnulty, Robin J RJ; Millar, Ann B AB; Navaratnam, Vidyia V; Oballa, Eunice E; Parfrey, Helen H; Saini, Gauri G; Whyte, Moira K B MKB; Zhang, Yingze Y; Kaminski, Naftali N; Adegunsoye, Ayodeji A; Strek, Mary E ME; Neighbors, Margaret M; Sheng, Xuting R XR; Gudmundsson, Gunnar G; Gudnason, Vilmundur V; Hatabu, Hiroto H; Lederer, David J DJ; Manichaikul, Ani A; Newell, John D JD; O'Connor, George T GT; Ortega, Victor E VE; Xu, Hanfei H; Fingerlin, Tasha E TE; Bossé, Yohan Y; Hao, Ke K; Joubert, Philippe P; Nickle, David C DC; Sin, Don D DD; Timens, Wim W; Furniss, Dominic D; Morris, Andrew P AP; Zondervan, Krina T KT; Hall, Ian P IP; Sayers, Ian I; Tobin, Martin D MD; Maher, Toby M TM; Cho, Michael H MH; Hunninghake, Gary M GM; Schwartz, David A DA; Yaspan, Brian L BL; Molyneaux, Philip L PL; Flores, Carlos C; Noth, Imre I; Jenkins, R Gisli RG; Wain, Louise V LV
Publication Date: 2020-03-01

Variant appearance in text: rs2292181
PubMed Link: 31710517
Variant Present in the following documents:
  • rccm.201905-1017OC_allen_data_supplement.pdf
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: TMEM42: G6G; rs2292181
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget
Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM
Publication Date: 2016-06-28

Variant appearance in text: TMEM42: G6G
PubMed Link: 27175599
Variant Present in the following documents:
  • oncotarget-07-39758-s006.xlsx, sheet 1
View BVdb publication page



Impact of microRNA regulation on variation in human gene expression.

Genome Research
Lu, Jian J; Clark, Andrew G AG
Publication Date: 2012-07

Variant appearance in text: rs2292181
PubMed Link: 22456605
Variant Present in the following documents:
  • 1243.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: rs2292181
PubMed Link: 19458495
Variant Present in the following documents:
  • Main text
View BVdb publication page