MLH1 c.1438G>T ;(p.E480*)

Variant ID: 3-37070303-G-T

NM_000249.3(MLH1):c.1438G>T;(p.E480*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy

Iranian Biomedical Journal
Mahasneh, Amjad A; Al-Shaheri, Fawaz N. FN; BaniHani, Mohammed N. MN
Publication Date: 2019-11

Variant appearance in text: MLH1: E480X
PubMed Link: 31104418
Variant Present in the following documents:
  • Main text
  • IBJ-23-412.pdf
View BVdb publication page



Genetic predisposition to colorectal cancer: where we stand and future perspectives.

World Journal Of Gastroenterology
Valle, Laura L
Publication Date: 2014-08-07

Variant appearance in text: MLH1: 1438G>T; Glu480*
PubMed Link: 25110415
Variant Present in the following documents:
  • Main text
View BVdb publication page



MUTYH the base excision repair gene family member associated with colorectal cancer polyposis.

Gastroenterology And Hepatology From Bed To Bench
Kashfi, Seyed Mohammad Hossein SM; Golmohammadi, Mina M; Behboudi, Faeghe F; Nazemalhosseini-Mojarad, Ehsan E; Zali, Mohammad Reza MR
Publication Date: 2013

Variant appearance in text: MLH1: E480X
PubMed Link: 24834277
Variant Present in the following documents:
  • Main text
  • GHFBB-6-S001.pdf
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: MLH1: E480*
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-4.xlsx, sheet 1
View BVdb publication page