SERPINB3 c.880G>C ;(p.D294H)

Variant ID: 18-61323184-C-G

NM_006919.2(SERPINB3):c.880G>C;(p.D294H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.

Journal Of Clinical Medicine
Zocchi, Lamberto L; Lontano, Alberto A; Merli, Martina M; Dika, Emi E; Nagore, Eduardo E; Quaglino, Pietro P; Puig, Susana S; Ribero, Simone S
Publication Date: 2021-08-23

Variant appearance in text: SCC: D294H
PubMed Link: 34442055
Variant Present in the following documents:
  • Main text
  • jcm-10-03760.pdf
View BVdb publication page



Hierarchical modeling of melanocortin 1 receptor variants with skin cancer risk.

Genetic Epidemiology
Joshi, Amit D AD; Li, Xin X; Kraft, Peter P; Han, Jiali J
Publication Date: 2018-09

Variant appearance in text: SCC: Asp294His
PubMed Link: 29968341
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project.

British Journal Of Cancer
Tagliabue, E E; Fargnoli, M C MC; Gandini, S S; Maisonneuve, P P; Liu, F F; Kayser, M M; Nijsten, T T; Han, J J; Kumar, R R; Gruis, N A NA; Ferrucci, L L; Branicki, W W; Dwyer, T T; Blizzard, L L; Helsing, P P; Autier, P P; García-Borrón, J C JC; Kanetsky, P A PA; Landi, M T MT; Little, J J; Newton-Bishop, J J; Sera, F F; Raimondi, S S; ,
Publication Date: 2015-07-14

Variant appearance in text: SCC: D294H
PubMed Link: 26103569
Variant Present in the following documents:
  • Main text
  • bjc2015231a.pdf
View BVdb publication page