P3H3 c.2111T>A ;(p.M704K)

Variant ID: 12-6948528-T-A

NM_014262.5(P3H3):c.2111T>A;(p.M704K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs3213431
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.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: rs3213431
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Association between genetic variants of the ADD1 and GNB3 genes and blood pressure response to the cold pressor test in a Chinese Han population: the GenSalt Study.

Hypertension Research : Official Journal Of The Japanese Society Of Hypertension
Wang, Laiyuan L; Chen, Shufeng S; Zhao, Qi Q; Hixson, James E JE; Rao, Dabeeru C DC; Jaquish, Cashell E CE; Huang, Jianfeng J; Lu, Xiangfeng X; Chen, Jichun J; Cao, Jie J; Li, Jianxin J; Li, Hongfan H; He, Jiang J; Liu, De-Pei DP; Gu, Dongfeng D; ,
Publication Date: 2012-08

Variant appearance in text: rs3213431
PubMed Link: 22476228
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel genetic variants in the alpha-adducin and guanine nucleotide binding protein beta-polypeptide 3 genes and salt sensitivity of blood pressure.

American Journal Of Hypertension
Kelly, Tanika N TN; Rice, Treva K TK; Gu, Dongfeng D; Hixson, James E JE; Chen, Jing J; Liu, Depei D; Jaquish, Cashell E CE; Bazzano, Lydia A LA; Hu, Dongsheng D; Ma, Jixiang J; Gu, C Charles CC; Huang, Jianfeng J; Hamm, L Lee LL; He, Jiang J
Publication Date: 2009-09

Variant appearance in text: rs3213431
PubMed Link: 19574959
Variant Present in the following documents:
  • Main text
View BVdb publication page