MLH1 c.877T>G ;(p.Y293D)

Variant ID: 3-37059083-T-G

NM_000249.3(MLH1):c.877T>G;(p.Y293D)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: HNPCC2: Y293D
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: MLH1: 877T>G; Tyr293Asp
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page



Exploring mechanisms of human disease through structurally resolved protein interactome networks.

Molecular Biosystems
Das, Jishnu J; Fragoza, Robert R; Lee, Hao Ran HR; Cordero, Nicolas A NA; Guo, Yu Y; Meyer, Michael J MJ; Vo, Tommy V TV; Wang, Xiujuan X; Yu, Haiyuan H
Publication Date: 2014-01

Variant appearance in text: MLH1: Y293D
PubMed Link: 24096645
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three-dimensional reconstruction of protein networks provides insight into human genetic disease.

Nature Biotechnology
Wang, Xiujuan X; Wei, Xiaomu X; Thijssen, Bram B; Das, Jishnu J; Lipkin, Steven M SM; Yu, Haiyuan H
Publication Date: 2012-01-15

Variant appearance in text: MLH1: Y293D
PubMed Link: 22252508
Variant Present in the following documents:
  • Main text
View BVdb publication page