MLH1 c.137G>A ;(p.S46N)

Variant ID: 3-37038130-G-A

NM_000249.3(MLH1):c.137G>A;(p.S46N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.

Human Mutation
Rayner, Emily E; Tiersma, Yvonne Y; Fortuno, Cristina C; van Hees-Stuivenberg, Sandrine S; Drost, Mark M; Thompson, Bryony B; Spurdle, Amanda B AB; de Wind, Niels N
Publication Date: 2022-09

Variant appearance in text: MLH1: Ser46Asn
PubMed Link: 35451539
Variant Present in the following documents:
  • HUMU-43-1249.pdf
View BVdb publication page



Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair-targeted therapies.

Science Translational Medicine
Tlemsani, Camille C; Takahashi, Nobuyuki N; Pongor, Lorinc L; Rajapakse, Vinodh N VN; Tyagi, Manoj M; Wen, Xinyu X; Fasaye, Grace-Ann GA; Schmidt, Keith T KT; Desai, Parth P; Kim, Chul C; Rajan, Arun A; Swift, Shannon S; Sciuto, Linda L; Vilimas, Rasa R; Webb, Santhana S; Nichols, Samantha S; Figg, William Douglas WD; Pommier, Yves Y; Calzone, Kathleen K; Steinberg, Seth M SM; Wei, Jun S JS; Guha, Udayan U; Turner, Clesson E CE; Khan, Javed J; Thomas, Anish A
Publication Date: 2021-01-27

Variant appearance in text: MLH1: 137G>A
PubMed Link: 33504652
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.

Human Mutation
Drost, Mark M; Koppejan, Hester H; de Wind, Niels N
Publication Date: 2013-11

Variant appearance in text: MLH1: 137G>A; S46N
PubMed Link: 24027009
Variant Present in the following documents:
  • Main text
View BVdb publication page