MLH1 c.665A>G ;(p.N222S)

Variant ID: 3-37053578-A-G

NM_000249.3(MLH1):c.665A>G;(p.N222S)

This variant was identified in 2 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: HNPCC2: N222S
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



Micronuclei Formation upon Radioiodine Therapy for Well-Differentiated Thyroid Cancer: The Influence of DNA Repair Genes Variants.

Genes
S Santos, Luís L; M Gil, Octávia O; N Silva, Susana S; C Gomes, Bruno B; C Ferreira, Teresa T; Limbert, Edward E; Rueff, José J
Publication Date: 2020-09-17

Variant appearance in text: MLH1: 665A>G
PubMed Link: 32957448
Variant Present in the following documents:
  • Main text
  • genes-11-01083.pdf
View BVdb publication page