CTNNB1 c.1139A>G ;(p.N380S)

Variant ID: 3-41274889-A-G

NM_001904.3(CTNNB1):c.1139A>G;(p.N380S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: CTNNB1: 1139A>G; N380S
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Publication Date: 2021-04-19

Variant appearance in text: CTNNB1: N380S
PubMed Link: 33875650
Variant Present in the following documents:
  • 41467_2021_22481_MOESM1_ESM.pdf
View BVdb publication page



Forty-five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor.

Nature Communications
Murphy, Andrew J AJ; Chen, Xiang X; Pinto, Emilia M EM; Williams, Justin S JS; Clay, Michael R MR; Pounds, Stanley B SB; Cao, Xueyuan X; Shi, Lei L; Lin, Tong T; Neale, Geoffrey G; Morton, Christopher L CL; Woolard, Mary A MA; Mulder, Heather L HL; Gil, Hyea Jin HJ; Rehg, Jerold E JE; Billups, Catherine A CA; Harlow, Matthew L ML; Dome, Jeffrey S JS; Houghton, Peter J PJ; Easton, John J; Zhang, Jinghui J; George, Rani E RE; Zambetti, Gerard P GP; Davidoff, Andrew M AM
Publication Date: 2019-12-20

Variant appearance in text: CTNNB1: N380S
PubMed Link: 31862972
Variant Present in the following documents:
  • 41467_2019_13646_MOESM6_ESM.xlsx, sheet 2
View BVdb publication page



Bioinformatics Knowledge Map for Analysis of Beta-Catenin Function in Cancer.

Plos One
Çelen, İrem İ; Ross, Karen E KE; Arighi, Cecilia N CN; Wu, Cathy H CH
Publication Date: 2015

Variant appearance in text: CTNNB1: 1139A>G; N380S
PubMed Link: 26509276
Variant Present in the following documents:
  • pone.0141773.s003.xlsx, sheet 1
View BVdb publication page



Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.

Plos One
Han, Sae-Won SW; Kim, Hwang-Phill HP; Shin, Jong-Yeon JY; Jeong, Eun-Goo EG; Lee, Won-Chul WC; Lee, Kyung-Hun KH; Won, Jae-Kyung JK; Kim, Tae-Yong TY; Oh, Do-Youn DY; Im, Seock-Ah SA; Bang, Yung-Jue YJ; Jeong, Seung-Yong SY; Park, Kyu Joo KJ; Park, Jae-Gahb JG; Kang, Gyeong Hoon GH; Seo, Jeong-Sun JS; Kim, Jong-Il JI; Kim, Tae-You TY
Publication Date: 2013

Variant appearance in text: CTNNB1: N380S
PubMed Link: 23700467
Variant Present in the following documents:
  • pone.0064271.s004.xlsx, sheet 1
View BVdb publication page