MSH6 c.40T>G ;(p.S14A)

Variant ID: 2-48010412-T-G

NM_000179.2(MSH6):c.40T>G;(p.S14A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Novel Molecular Determinants of Response or Resistance to Immune Checkpoint Inhibitor Therapies in Melanoma.

Frontiers In Immunology
Zhang, Wenjing W; Kong, Yujia Y; Li, Yuting Y; Shi, Fuyan F; Lyu, Juncheng J; Sheng, Chao C; Wang, Suzhen S; Wang, Qinghua Q
Publication Date: 2021

Variant appearance in text: MSH6: S14A
PubMed Link: 35087523
Variant Present in the following documents:
  • Main text
  • fimmu-12-798474.pdf
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: 40T>G; S14A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



DNA repair- and nucleotide metabolism-related genes exhibit differential CHG methylation patterns in natural and synthetic polyploids (Brassica napus L.).

Horticulture Research
Yin, Liqin L; Zhu, Zhendong Z; Huang, Liangjun L; Luo, Xuan X; Li, Yun Y; Xiao, Chaowen C; Yang, Jin J; Wang, Jisheng J; Zou, Qiong Q; Tao, Lanrong L; Kang, Zeming Z; Tang, Rong R; Wang, Maolin M; Fu, Shaohong S
Publication Date: 2021-07-01

Variant appearance in text: MSH6: S14a
PubMed Link: 34193846
Variant Present in the following documents:
  • 41438_2021_Article_576.pdf
View BVdb publication page



The genetic landscape of choroid plexus tumors in children and adults.

Neuro-Oncology
Thomas, Christian C; Soschinski, Patrick P; Zwaig, Melissa M; Oikonomopoulos, Spyridon S; Okonechnikov, Konstantin K; Pajtler, Kristian W KW; Sill, Martin M; Schweizer, Leonille L; Koch, Arend A; Neumann, Julia J; Schüller, Ulrich U; Sahm, Felix F; Rauschenbach, Laurèl L; Keyvani, Kathy K; Proescholdt, Martin M; Riemenschneider, Markus J MJ; Segewiß, Jochen J; Ruckert, Christian C; Grauer, Oliver O; Monoranu, Camelia-Maria CM; Lamszus, Katrin K; Patrizi, Annarita A; Kordes, Uwe U; Siebert, Reiner R; Kool, Marcel M; Ragoussis, Jiannis J; Foulkes, William D WD; Paulus, Werner W; Rivera, Barbara B; Hasselblatt, Martin M
Publication Date: 2021-04-12

Variant appearance in text: MSH6: S14A
PubMed Link: 33249490
Variant Present in the following documents:
  • Main text
View BVdb publication page



The functional landscape of the human phosphoproteome.

Nature Biotechnology
Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P
Publication Date: 2020-03

Variant appearance in text: MSH6: 40T>G; Ser14Ala
PubMed Link: 31819260
Variant Present in the following documents:
  • EMS84831-supplement-Table_S5.xlsx, sheet 1
View BVdb publication page



PI3K/AKT/mTOR Pathway Alterations Promote Malignant Progression and Xenograft Formation in Oligodendroglial Tumors.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Tateishi, Kensuke K; Nakamura, Taishi T; Juratli, Tareq A TA; Williams, Erik A EA; Matsushita, Yuko Y; Miyake, Shigeta S; Nishi, Mayuko M; Miller, Julie J JJ; Tummala, Shilpa S SS; Fink, Alexandria L AL; Lelic, Nina N; Koerner, Mara V A MVA; Miyake, Yohei Y; Sasame, Jo J; Fujimoto, Kenji K; Tanaka, Takahiro T; Minamimoto, Ryogo R; Matsunaga, Shigeo S; Mukaihara, Shigeo S; Shuto, Takashi T; Taguchi, Hiroki H; Udaka, Naoko N; Murata, Hidetoshi H; Ryo, Akihide A; Yamanaka, Shoji S; Curry, William T WT; Dias-Santagata, Dora D; Yamamoto, Tetsuya T; Ichimura, Koichi K; Batchelor, Tracy T TT; Chi, Andrew S AS; Iafrate, A John AJ; Wakimoto, Hiroaki H; Cahill, Daniel P DP
Publication Date: 2019-07-15

Variant appearance in text: MSH6: S14A
PubMed Link: 30975663
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas.

Genome Medicine
Buckley, Alexandra R AR; Ideker, Trey T; Carter, Hannah H; Harismendy, Olivier O; Schork, Nicholas J NJ
Publication Date: 2018-09-14

Variant appearance in text: MSH6: S14a
PubMed Link: 30217226
Variant Present in the following documents:
  • Main text
  • 13073_2018_Article_579.pdf
View BVdb publication page