COMT c.320A>G ;(p.H107R)

Variant ID: 22-19951119-A-G

NM_000754.3(COMT):c.320A>G;(p.H107R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.

Nature Communications
Yin, Xianyong X; Chan, Lap Sum LS; Bose, Debraj D; Jackson, Anne U AU; VandeHaar, Peter P; Locke, Adam E AE; Fuchsberger, Christian C; Stringham, Heather M HM; Welch, Ryan R; Yu, Ketian K; Fernandes Silva, Lilian L; Service, Susan K SK; Zhang, Daiwei D; Hector, Emily C EC; Young, Erica E; Ganel, Liron L; Das, Indraniel I; Abel, Haley H; Erdos, Michael R MR; Bonnycastle, Lori L LL; Kuusisto, Johanna J; Stitziel, Nathan O NO; Hall, Ira M IM; Wagner, Gregory R GR; , ; Kang, Jian J; Morrison, Jean J; Burant, Charles F CF; Collins, Francis S FS; Ripatti, Samuli S; Palotie, Aarno A; Freimer, Nelson B NB; Mohlke, Karen L KL; Scott, Laura J LJ; Wen, Xiaoquan X; Fauman, Eric B EB; Laakso, Markku M; Boehnke, Michael M
Publication Date: 2022-03-28

Variant appearance in text: rs199637204
PubMed Link: 35347128
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_29143.pdf
View BVdb publication page



A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.

Cold Spring Harbor Molecular Case Studies
Lu, Charles C; Riedell, Peter P; Miller, Christopher A CA; Hagemann, Ian S IS; Westervelt, Peter P; Ozenberger, Bradley A BA; O'Laughlin, Michelle M; Magrini, Vincent V; Demeter, Ryan T RT; Duncavage, Eric J EJ; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Publication Date: 2016-01

Variant appearance in text: COMT: H107R
PubMed Link: 27148581
Variant Present in the following documents:
  • supp_2.1.a000687_Supp_Table_2.xlsx, sheet 1
View BVdb publication page



Proteomic analysis of colon and rectal carcinoma using standard and customized databases.

Scientific Data
Slebos, Robbert J C RJ; Wang, Xia X; Wang, Xiaojing X; Wang, Xaojing X; Zhang, Bing B; Tabb, David L DL; Liebler, Daniel C DC
Publication Date: 2015

Variant appearance in text: rs199637204
PubMed Link: 26110064
Variant Present in the following documents:
  • sdata201522-s2.xls, sheet 4
View BVdb publication page