ATP7A c.3005G>T ;(p.C1002F)

Variant ID: X-77284835-G-T

NM_000052.5(ATP7A):c.3005G>T;(p.C1002F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Computational Investigation of the pH Dependence of Stability of Melanosome Proteins: Implication for Melanosome formation and Disease.

International Journal Of Molecular Sciences
Koirala, Mahesh M; Shashikala, H B Mihiri HBM; Jeffries, Jacob J; Wu, Bohua B; Loftus, Stacie K SK; Zippin, Jonathan H JH; Alexov, Emil E
Publication Date: 2021-07-31

Variant appearance in text: ATP7A: C1002F
PubMed Link: 34361043
Variant Present in the following documents:
  • Main text
  • ijms-22-08273.pdf
View BVdb publication page



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: MNK: C1002F
PubMed Link: 32333855
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page