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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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