MSH6 c.3819T>G ;(p.N1273K)

Variant ID: 2-48033608-T-G

NM_000179.2(MSH6):c.3819T>G;(p.N1273K)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Multilevel proteomic analyses reveal molecular diversity between diffuse-type and intestinal-type gastric cancer.

Nature Communications
Shi, Wenhao W; Wang, Yushen Y; Xu, Chen C; Li, Yan Y; Ge, Sai S; Bai, Bin B; Zhang, Kecheng K; Wang, Yunzhi Y; Zheng, Nairen N; Wang, Juan J; Wang, Shiqi S; Ji, Gang G; Li, Jipeng J; Nie, Yongzhan Y; Liang, Wenquan W; Wu, Xiaosong X; Cui, Jianxin J; Wang, Yi Y; Chen, Lin L; Zhao, Qingchuan Q; Shen, Lin L; He, Fuchu F; Qin, Jun J; Ding, Chen C
Publication Date: 2023-02-14

Variant appearance in text: MSH6: Asn1273Lys
PubMed Link: 36788224
Variant Present in the following documents:
  • 41467_2023_35797_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Clonal diversification and histogenesis of malignant germ cell tumours.

Nature Communications
Oliver, Thomas R W TRW; Chappell, Lia L; Sanghvi, Rashesh R; Deighton, Lauren L; Ansari-Pour, Naser N; Dentro, Stefan C SC; Young, Matthew D MD; Coorens, Tim H H THH; Jung, Hyunchul H; Butler, Tim T; Neville, Matthew D C MDC; Leongamornlert, Daniel D; Sanders, Mathijs A MA; Hooks, Yvette Y; Cagan, Alex A; Mitchell, Thomas J TJ; Cortes-Ciriano, Isidro I; Warren, Anne Y AY; Wedge, David C DC; Heer, Rakesh R; Coleman, Nicholas N; Murray, Matthew J MJ; Campbell, Peter J PJ; Rahbari, Raheleh R; Behjati, Sam S
Publication Date: 2022-08-11

Variant appearance in text: MSH6: 3819T>G
PubMed Link: 35953478
Variant Present in the following documents:
  • 41467_2022_31375_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MSH6: 3819T>G; Asn1273Lys; rs759642651
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07

Variant appearance in text: rs759642651
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp003.xlsx, sheet 3
View BVdb publication page



Novel variants in women with premature ovarian function decline identified via whole-exome sequencing.

Journal Of Assisted Reproduction And Genetics
Tang, Ruiyi R; Yu, Qi Q
Publication Date: 2020-10

Variant appearance in text: MSH6: 3819T>G; N1273K; rs759642651
PubMed Link: 32789750
Variant Present in the following documents:
  • Main text
View BVdb publication page



A proteomic landscape of diffuse-type gastric cancer.

Nature Communications
Ge, Sai S; Xia, Xia X; Ding, Chen C; Zhen, Bei B; Zhou, Quan Q; Feng, Jinwen J; Yuan, Jiajia J; Chen, Rui R; Li, Yumei Y; Ge, Zhongqi Z; Ji, Jiafu J; Zhang, Lianhai L; Wang, Jiayuan J; Li, Zhongwu Z; Lai, Yumei Y; Hu, Ying Y; Li, Yanyan Y; Li, Yilin Y; Gao, Jing J; Chen, Lin L; Xu, Jianming J; Zhang, Chunchao C; Jung, Sung Yun SY; Choi, Jong Min JM; Jain, Antrix A; Liu, Mingwei M; Song, Lei L; Liu, Wanlin W; Guo, Gaigai G; Gong, Tongqing T; Huang, Yin Y; Qiu, Yang Y; Huang, Wenwen W; Shi, Tieliu T; Zhu, Weimin W; Wang, Yi Y; He, Fuchu F; Shen, Lin L; Qin, Jun J
Publication Date: 2018-03-08

Variant appearance in text: MSH6: Asn1273Lys
PubMed Link: 29520031
Variant Present in the following documents:
  • 41467_2018_3121_MOESM5_ESM.xlsx, sheet 8
View BVdb publication page