NFKB1 c.2136T>G ;(p.H712Q)

Variant ID: 4-103528817-T-G

NM_003998.3(NFKB1):c.2136T>G;(p.H712Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs4648099
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



IκBKβ and NFκB1, NSAID use and risk of colorectal cancer in the Colon Cancer Family Registry.

Carcinogenesis
Seufert, Brenna L BL; Poole, Elizabeth M EM; Whitton, John J; Xiao, Liren L; Makar, Karen W KW; Campbell, Peter T PT; Kulmacz, Richard J RJ; Baron, John A JA; Newcomb, Polly A PA; Slattery, Martha L ML; Potter, John D JD; Ulrich, Cornelia M CM
Publication Date: 2013-01

Variant appearance in text: rs4648099
PubMed Link: 23002237
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.

Bmc Cancer
Savas, Sevtap S; Ozcelik, Hilmi H
Publication Date: 2005-08-19

Variant appearance in text: NFKB1: H712Q; rs4648099
PubMed Link: 16111488
Variant Present in the following documents:
  • Main text
  • 1471-2407-5-107.pdf
View BVdb publication page