BHMT c.595G>C ;(p.G199R)

Variant ID: 5-78417158-G-C

NM_001713.2(BHMT):c.595G>C;(p.G199R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs59866108
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs59866108
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Betaine-homocysteine methyltransferase: human liver genotype-phenotype correlation.

Molecular Genetics And Metabolism
Feng, Qiping Q; Kalari, Krishna K; Fridley, Brooke L BL; Jenkins, Gregory G; Ji, Yuan Y; Abo, Ryan R; Hebbring, Scott S; Zhang, Jianping J; Nye, Monica D MD; Leeder, J Steven JS; Weinshilboum, Richard M RM
Publication Date: 2011-02

Variant appearance in text: rs59866108
PubMed Link: 21093336
Variant Present in the following documents:
  • Main text
View BVdb publication page