HAAO c.124A>G ;(p.T42A)

Variant ID: 2-43015704-T-C

NM_012205.2(HAAO):c.124A>G;(p.T42A)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genetic variations related to inflammation in suicidal ideation and behavior: A systematic review.

Frontiers In Psychiatry
Tamimou, Rabah R; Lumbroso, Serge S; Mouzat, Kevin K; Lopez-Castroman, Jorge J
Publication Date: 2022

Variant appearance in text: rs3816182
PubMed Link: 36325529
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs3816182
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs3816182
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, 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: rs3816182
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs3816182
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Dick, Danielle M DM; Meyers, Jacquelyn J; Aliev, Fazil F; Nurnberger, John J; Kramer, John J; Kuperman, Sam S; Porjesz, Bernice B; Tischfield, Jay J; Edenberg, Howard J HJ; Foroud, Tatiana T; Schuckit, Marc M; Goate, Alison A; Hesselbrock, Victor V; Bierut, Laura L
Publication Date: 2010-09

Variant appearance in text: rs3816182
PubMed Link: 20468071
Variant Present in the following documents:
  • Main text
View BVdb publication page