MSH2 c.721_722inv ;(p.L241S)

Variant ID: 2-47639628-CT-AG

NM_000251.2(MSH2):c.721_722inv;(p.L241S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MSH2: L241S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



A conserved MutS homolog connector domain interface interacts with MutL homologs.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Mendillo, Marc L ML; Hargreaves, Victoria V VV; Jamison, Jonathan W JW; Mo, Ashley O AO; Li, Sheng S; Putnam, Christopher D CD; Woods, Virgil L VL; Kolodner, Richard D RD
Publication Date: 2009-12-29

Variant appearance in text: MSH2: L241S
PubMed Link: 20080788
Variant Present in the following documents:
  • Main text
View BVdb publication page