SLC24A3 c.480G>A ;(p.S160=)

Variant ID: 20-19565671-G-A

NM_020689.3(SLC24A3):c.480G>A;(p.S160=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: SLC24A3: S160S; rs17293432
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: SLC24A3: S160S; rs17293432
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.

Cornea
Aldave, Anthony J AJ; Yellore, Vivek S VS; Vo, Rosalind C RC; Kamal, Khairidzan M KM; Rayner, Sylvia A SA; Plaisier, Christopher L CL; Chen, Michael C MC; Damani, Mausam R MR; Pham, Michele N MN; Gorin, Michael B MB; Sobel, Eric E; Papp, Jeanette J
Publication Date: 2009-08

Variant appearance in text: SLC24A3: 480G>A; Ser160Ser; rs17293432
PubMed Link: 19574904
Variant Present in the following documents:
  • Main text
View BVdb publication page