HP c.214A>G ;(p.K72E)

Variant ID: 16-72091314-A-G

NM_005143.3(HP):c.214A>G;(p.K72E)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics
Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z
Publication Date: 2020-10

Variant appearance in text: HP: 214A>G; Lys72Glu
PubMed Link: 32827758
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



Haptoglobin polymorphisms in Latin American populations.

Scientific Reports
Soejima, Mikiko M; Koda, Yoshiro Y
Publication Date: 2020-08-13

Variant appearance in text: rs137853233
PubMed Link: 32792581
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_70755.pdf
View BVdb publication page



SET binding to Sgo1 inhibits Sgo1-cohesin interactions and promotes chromosome segregation.

The Journal Of Cell Biology
Qu, Qianhui Q; Zhang, Qian Q; Yang, Lu L; Chen, Yujue Y; Liu, Hong H
Publication Date: 2019-08-05

Variant appearance in text: HP: K72E
PubMed Link: 31227592
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structure and dynamics of the RNAPII CTDsome with Rtt103.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Jasnovidova, Olga O; Klumpler, Tomas T; Kubicek, Karel K; Kalynych, Sergei S; Plevka, Pavel P; Stefl, Richard R
Publication Date: 2017-10-17

Variant appearance in text: HP: K72E
PubMed Link: 29073019
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Association of Haptoglobin Gene Variants and Retinopathy in Type 2 Diabetic Patients: A Meta-Analysis.

Journal Of Diabetes Research
Wu, Huiqun H; Wu, Huan H; Shi, Lili L; Yuan, Xinlu X; Yin, Ying Y; Yuan, Mingjie M; Zhou, Yushan Y; Hu, Qianwen Q; Jiang, Kui K; Dong, Jiancheng J
Publication Date: 2017

Variant appearance in text: rs137853233
PubMed Link: 28758129
Variant Present in the following documents:
  • Main text
  • JDR2017-2195059.pdf
View BVdb publication page