HR c.237G>C ;(p.E79D)

Variant ID: 8-21986447-C-G

NM_005144.4(HR):c.237G>C;(p.E79D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Alcohol-derived DNA crosslinks are repaired by two distinct mechanisms.

Nature
Hodskinson, Michael R MR; Bolner, Alice A; Sato, Koichi K; Kamimae-Lanning, Ashley N AN; Rooijers, Koos K; Witte, Merlijn M; Mahesh, Mohan M; Silhan, Jan J; Petek, Maya M; Williams, David M DM; Kind, Jop J; Chin, Jason W JW; Patel, Ketan J KJ; Knipscheer, Puck P
Publication Date: 2020-03

Variant appearance in text: HR: E79D
PubMed Link: 32132710
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: HR: Glu79Asp
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 4
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: HR: E79D
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page