SPINK5 c.2905A>G ;(p.K969E)

Variant ID: 5-147506583-A-G

NM_006846.3(SPINK5):c.2905A>G;(p.K969E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg
Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I
Publication Date: 2021-11-26

Variant appearance in text: SPINK5: 2905A>G; Lys969Glu; rs3188691
PubMed Link: 34837038
Variant Present in the following documents:
  • 41431_2021_984_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

European Journal Of Human Genetics : Ejhg
Adeyemo, Adebolajo A; Faridi, Rabia R; Chattaraj, Parna P; Yousaf, Rizwan R; Tona, Risa R; Okorie, Samuel S; Bharadwaj, Thashi T; Nouel-Saied, Liz M LM; Acharya, Anushree A; Schrauwen, Isabelle I; Morell, Robert J RJ; Leal, Suzanne M SM; Friedman, Thomas B TB; Griffith, Andrew J AJ; Roux, Isabelle I
Publication Date: 2022-01

Variant appearance in text: SPINK5: 2905A>G; Lys969Glu; rs3188691
PubMed Link: 34837038
Variant Present in the following documents:
  • 41431_2021_984_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: SPINK5: K969E; rs3188691
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.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: rs3188691
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page