HMCN1 c.9839G>A ;(p.W3280*)

Variant ID: 1-186060001-G-A

NM_031935.2(HMCN1):c.9839G>A;(p.W3280*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: HMCN1: 9839G>A; W3280*
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
View BVdb publication page



Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.

Vision Research
Ung, Cindy C; Sanchez, Angie V AV; Shen, Lishuang L; Davoudi, Samaneh S; Ahmadi, Tina T; Navarro-Gomez, Daniel D; Chen, Ching J CJ; Hancock, Heather H; Penman, Alan A; Hoadley, Suzanne S; Consugar, Mark M; Restrepo, Carlos C; Shah, Vinay A VA; Arboleda-Velasquez, Joseph F JF; Sobrin, Lucia L; Gai, Xiaowu X; Kim, Leo A LA
Publication Date: 2017-10

Variant appearance in text: HMCN1: 9839G>A; Trp3280Ter; rs375502689
PubMed Link: 28431867
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: HMCN1: W3280X
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
  • ncomms14262-s8.xlsx, sheet 1
View BVdb publication page