MSH2 c.1044G>C ;(p.Q348H)

Variant ID: 2-47643536-G-C

NM_000251.2(MSH2):c.1044G>C;(p.Q348H)

This variant was identified in 3 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: Q348H
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Molecular characterization of circulating colorectal tumor cells defines genetic signatures for individualized cancer care.

Oncotarget
Kong, Say Li SL; Liu, Xingliang X; Suhaimi, Nur-Afidah Mohamed NM; Koh, Kenneth Jia Hao KJH; Hu, Min M; Lee, Daniel Yoke San DYS; Cima, Igor I; Phyo, Wai Min WM; Lee, Esther Xing Wei EXW; Tai, Joyce A JA; Foong, Yu Miin YM; Vo, Jess Honganh JH; Koh, Poh Koon PK; Zhang, Tong T; Ying, Jackie Y JY; Lim, Bing B; Tan, Min-Han MH; Hillmer, Axel M AM
Publication Date: 2017-09-15

Variant appearance in text: MSH2: Q348H
PubMed Link: 28978093
Variant Present in the following documents:
  • oncotarget-08-68026-s002.xlsx, sheet 3
View BVdb publication page



Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

British Journal Of Cancer
Pal, T T; Akbari, M R MR; Sun, P P; Lee, J-H JH; Fulp, J J; Thompson, Z Z; Coppola, D D; Nicosia, S S; Sellers, T A TA; McLaughlin, J J; Risch, H A HA; Rosen, B B; Shaw, P P; Schildkraut, J J; Narod, S A SA
Publication Date: 2012-11-06

Variant appearance in text: MSH2: Gln348His
PubMed Link: 23047549
Variant Present in the following documents:
  • Main text
  • bjc2012452a.pdf
View BVdb publication page