SLC24A5 c.521G>A ;(p.R174K)

Variant ID: 15-48427112-G-A

NM_205850.2(SLC24A5):c.521G>A;(p.R174K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes
Wiriyasermkul, Pattama P; Moriyama, Satomi S; Nagamori, Shushi S
Publication Date: 2020-12-01

Variant appearance in text: SLC24A5: R174K
PubMed Link: 32333855
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

The Journal Of Biological Chemistry
Jalloul, Ali H AH; Rogasevskaia, Tatiana P TP; Szerencsei, Robert T RT; Schnetkamp, Paul P M PP
Publication Date: 2016-06-17

Variant appearance in text: OCA6: 521G>A
PubMed Link: 27129268
Variant Present in the following documents:
  • Main text
View BVdb publication page