MLH1 c.1359G>C ;(p.K453N)

Variant ID: 3-37067448-G-C

NM_000249.3(MLH1):c.1359G>C;(p.K453N)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: MLH1: 1359G>C; Lys453Asn; rs756099600
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Disruptive Selection of Human Immunostimulatory and Immunosuppressive Genes Both Provokes and Prevents Rheumatoid Arthritis, Respectively, as a Self-Domestication Syndrome.

Frontiers In Genetics
Klimova, Natalya V NV; Oshchepkova, Evgeniya E; Chadaeva, Irina I; Sharypova, Ekaterina E; Ponomarenko, Petr P; Drachkova, Irina I; Rasskazov, Dmitry D; Oshchepkov, Dmitry D; Ponomarenko, Mikhail M; Savinkova, Ludmila L; Kolchanov, Nikolay A NA; Kozlov, Vladimir V
Publication Date: 2021

Variant appearance in text: rs756099600
PubMed Link: 34239535
Variant Present in the following documents:
  • Main text
  • fgene-12-610774.pdf
View BVdb publication page



Candidate SNP Markers of Atherogenesis Significantly Shifting the Affinity of TATA-Binding Protein for Human Gene Promoters show stabilizing Natural Selection as a Sum of Neutral Drift Accelerating Atherogenesis and Directional Natural Selection Slowing It.

International Journal Of Molecular Sciences
Ponomarenko, Mikhail M; Rasskazov, Dmitry D; Chadaeva, Irina I; Sharypova, Ekaterina E; Drachkova, Irina I; Oshchepkov, Dmitry D; Ponomarenko, Petr P; Savinkova, Ludmila L; Oshchepkova, Evgeniya E; Nazarenko, Maria M; Kolchanov, Nikolay N
Publication Date: 2020-02-05

Variant appearance in text: rs756099600
PubMed Link: 32033288
Variant Present in the following documents:
  • Main text
  • ijms-21-01045.pdf
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: MLH1: K453N
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s010.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MLH1: 1359G>C; Lys453Asn
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page