Publications:

---

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

International Journal Of Molecular Sciences

Frederiksen, Jane H JH; Jensen, Sara B SB; Tümer, Zeynep Z; Hansen, Thomas V O TVO

Publication Date: 2021-08-11

Variant appearance in text: MSH6: His1248Asp

PubMed Link: 34445333

Variant Present in the following documents:

• Main text
• ijms-22-08627.pdf

View BVdb publication page

---

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: MSH6: 3742C>G; His1248Asp; rs63750882

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MSH6: H1248D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.

The Journal Of Biological Chemistry

Cyr, Jennifer L JL; Heinen, Christopher D CD

Publication Date: 2008-11-14

Variant appearance in text: MSH6: H1248D

PubMed Link: 18790734

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Cadmium inhibits mismatch repair by blocking the ATPase activity of the MSH2-MSH6 complex.

Nucleic Acids Research

Banerjee, Sreeparna S; Flores-Rozas, Hernan H

Publication Date: 2005

Variant appearance in text: MSH6: H1248D

PubMed Link: 15746000

Variant Present in the following documents:

• Main text
• gki291.pdf

View BVdb publication page

---

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

American Journal Of Human Genetics

Berends, Maran J W MJ; Wu, Ying Y; Sijmons, Rolf H RH; Mensink, Rob G J RG; van der Sluis, Tineke T; Hordijk-Hos, Jannet M JM; de Vries, Elisabeth G E EG; Hollema, Harry H; Karrenbeld, Arend A; Buys, Charles H C M CH; van der Zee, Ate G J AG; Hofstra, Robert M W RM; Kleibeuker, Jan H JH

Publication Date: 2002-01

Variant appearance in text: MSH6: His1248Asp

PubMed Link: 11709755

Variant Present in the following documents:

• Main text

View BVdb publication page

---