APBA1 c.1679G>A ;(p.R560H)

Variant ID: 9-72071272-C-T

NM_001163.3(APBA1):c.1679G>A;(p.R560H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications
Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L
Publication Date: 2021-04-19

Variant appearance in text: APBA1: R560H
PubMed Link: 33875650
Variant Present in the following documents:
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
  • 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genome-wide association study on metabolite accumulation in a wild barley NAM population reveals natural variation in sugar metabolism.

Plos One
Gemmer, Mathias Ruben MR; Richter, Chris C; Schmutzer, Thomas T; Raorane, Manish L ML; Junker, Björn B; Pillen, Klaus K; Maurer, Andreas A
Publication Date: 2021

Variant appearance in text: X11: R560H
PubMed Link: 33592061
Variant Present in the following documents:
  • pone.0246510.s018.xlsx, sheet 1
View BVdb publication page



Genomic and molecular characterization of esophageal squamous cell carcinoma.

Nature Genetics
Lin, De-Chen DC; Hao, Jia-Jie JJ; Nagata, Yasunobu Y; Xu, Liang L; Shang, Li L; Meng, Xuan X; Sato, Yusuke Y; Okuno, Yusuke Y; Varela, Ana Maria AM; Ding, Ling-Wen LW; Garg, Manoj M; Liu, Li-Zhen LZ; Yang, Henry H; Yin, Dong D; Shi, Zhi-Zhou ZZ; Jiang, Yan-Yi YY; Gu, Wen-Yue WY; Gong, Ting T; Zhang, Yu Y; Xu, Xin X; Kalid, Ori O; Shacham, Sharon S; Ogawa, Seishi S; Wang, Ming-Rong MR; Koeffler, H Phillip HP
Publication Date: 2014-05

Variant appearance in text: APBA1: R560H
PubMed Link: 24686850
Variant Present in the following documents:
  • NIHMS573166-supplement-9.xlsx, sheet 6
View BVdb publication page