MLH1 c.2006A>C ;(p.E669A)

Variant ID: 3-37090411-A-C

NM_000249.3(MLH1):c.2006A>C;(p.E669A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease.

Cell Reports
Goold, Robert R; Hamilton, Joseph J; Menneteau, Thomas T; Flower, Michael M; Bunting, Emma L EL; Aldous, Sarah G SG; Porro, Antonio A; Vicente, José R JR; Allen, Nicholas D ND; Wilkinson, Hilary H; Bates, Gillian P GP; Sartori, Alessandro A AA; Thalassinos, Konstantinos K; Balmus, Gabriel G; Tabrizi, Sarah J SJ
Publication Date: 2021-08-31

Variant appearance in text: MLH1: E669A
PubMed Link: 34469738
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc2.pdf
View BVdb publication page



FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeats.

Science Advances
Porro, Antonio A; Mohiuddin, Mohiuddin M; Zurfluh, Christina C; Spegg, Vincent V; Dai, Jingqi J; Iehl, Florence F; Ropars, Virginie V; Collotta, Giulio G; Fishwick, Keri M KM; Mozaffari, Nour L NL; Guérois, Raphaël R; Jiricny, Josef J; Altmeyer, Matthias M; Charbonnier, Jean-Baptiste JB; Pearson, Christopher E CE; Sartori, Alessandro A AA
Publication Date: 2021-07

Variant appearance in text: MLH1: E669A
PubMed Link: 34330701
Variant Present in the following documents:
  • Main text
  • abf7906.pdf
View BVdb publication page



FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeats.

Science Advances
Porro, Antonio A; Mohiuddin, Mohiuddin M; Zurfluh, Christina C; Spegg, Vincent V; Dai, Jingqi J; Iehl, Florence F; Ropars, Virginie V; Collotta, Giulio G; Fishwick, Keri M KM; Mozaffari, Nour L NL; Guérois, Raphaël R; Jiricny, Josef J; Altmeyer, Matthias M; Charbonnier, Jean-Baptiste JB; Pearson, Christopher E CE; Sartori, Alessandro A AA
Publication Date: 2021-07

Variant appearance in text: MLH1: E669A
PubMed Link: 34330701
Variant Present in the following documents:
  • Main text
  • abf7906.pdf
View BVdb publication page