LARP6 c.774C>G ;(p.C258W)

Variant ID: 15-71125093-G-C

NM_018357.2(LARP6):c.774C>G;(p.C258W)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs3825970
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: rs3825970
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs3825970
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
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: rs3825970
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Global genomic and transcriptomic analysis of human pancreatic islets reveals novel genes influencing glucose metabolism.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fadista, João J; Vikman, Petter P; Laakso, Emilia Ottosson EO; Mollet, Inês Guerra IG; Esguerra, Jonathan Lou JL; Taneera, Jalal J; Storm, Petter P; Osmark, Peter P; Ladenvall, Claes C; Prasad, Rashmi B RB; Hansson, Karin B KB; Finotello, Francesca F; Uvebrant, Kristina K; Ofori, Jones K JK; Di Camillo, Barbara B; Krus, Ulrika U; Cilio, Corrado M CM; Hansson, Ola O; Eliasson, Lena L; Rosengren, Anders H AH; Renström, Erik E; Wollheim, Claes B CB; Groop, Leif L
Publication Date: 2014-09-23

Variant appearance in text: rs3825970
PubMed Link: 25201977
Variant Present in the following documents:
  • Main text
View BVdb publication page