MLH1 c.649C>A ;(p.R217S)

Variant ID: 3-37053562-C-A

NM_000249.3(MLH1):c.649C>A;(p.R217S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Gervas, Polina P; Molokov, Aleksey A; Babyshkina, Nataliya N; Kiselev, Artem A; Zarubin, Aleksei A; Yumov, Evgeny E; Pisareva, Lubov L; Choynzonov, Evgeny E; Cherdyntseva, Nadezda N
Publication Date: 2022-06-01

Variant appearance in text: rs4986984
PubMed Link: 35763645
Variant Present in the following documents:
  • Main text
  • APJCP-23-2027.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: HNPCC2: R217S; rs4986984
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Whole-Exome Sequencing of Nasopharyngeal Carcinoma Families Reveals Novel Variants Potentially Involved in Nasopharyngeal Carcinoma.

Scientific Reports
Yu, Guoqin G; Hsu, Wan-Lun WL; Coghill, Anna E AE; Yu, Kelly J KJ; Wang, Cheng-Ping CP; Lou, Pei-Jen PJ; Liu, Zhiwei Z; Jones, Kristie K; Vogt, Aurelie A; Wang, Mingyi M; Mbulaiteye, Sam M SM; Chen, Hao-Hui HH; Boland, Joseph J; Yeager, Meredith M; Diehl, Scott R SR; Chen, Chien-Jen CJ; Hildesheim, Allan A; Goldstein, Alisa M AM
Publication Date: 2019-07-09

Variant appearance in text: rs4986984
PubMed Link: 31289279
Variant Present in the following documents:
  • 41598_2019_46137_MOESM1_ESM.pdf
View BVdb publication page



A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.

Plos Computational Biology
Sun, James X JX; He, Yuting Y; Sanford, Eric E; Montesion, Meagan M; Frampton, Garrett M GM; Vignot, Stéphane S; Soria, Jean-Charles JC; Ross, Jeffrey S JS; Miller, Vincent A VA; Stephens, Phil J PJ; Lipson, Doron D; Yelensky, Roman R
Publication Date: 2018-02

Variant appearance in text: rs4986984
PubMed Link: 29415044
Variant Present in the following documents:
  • pcbi.1005965.s007.pdf
View BVdb publication page



NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology
South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM
Publication Date: 2014-10

Variant appearance in text: rs4986984
PubMed Link: 24662767
Variant Present in the following documents:
  • NIHMS57574-supplement-data_tables.xlsx, sheet 2
View BVdb publication page