GC c.857G>C ;(p.C286S)

Variant ID: 4-72622606-C-G

NM_000583.3(GC):c.857G>C;(p.C286S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases
Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U
Publication Date: 2020-11-18

Variant appearance in text: GC: 857G>C
PubMed Link: 33208168
Variant Present in the following documents:
  • 13023_2020_1608_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



A novel mechanism of regulating breast cancer cell migration via palmitoylation-dependent alterations in the lipid raft affiliation of CD44.

Breast Cancer Research : Bcr
Babina, Irina S IS; McSherry, Elaine A EA; Donatello, Simona S; Hill, Arnold D K AD; Hopkins, Ann M AM
Publication Date: 2014-02-10

Variant appearance in text: GC: C286S
PubMed Link: 24512624
Variant Present in the following documents:
  • Main text
  • bcr3614.pdf
View BVdb publication page