COMT c.718G>A ;(p.E240K)

Variant ID: 22-19956161-G-A

NM_000754.3(COMT):c.718G>A;(p.E240K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: COMT: 718G>A
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Deep sequencing analysis to identify novel and rare variants in pain-related genes in patients with acute postoperative pain and high morphine use.

Journal Of Pain Research
Loke, Mun-Fai MF; Wei, Heming H; Yeo, Junjie J; Sng, Ban-Leong BL; Sia, Alex T AT; Tan, Ene-Choo EC
Publication Date: 2019

Variant appearance in text: COMT: 718G>A; Glu240Lys
PubMed Link: 31571979
Variant Present in the following documents:
  • Main text
  • jpr-12-2755.pdf
View BVdb publication page