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TYR c.34_35delinsGA ;(p.S12D)
Variant ID: 11-88911155-AG-GA
NM_000372.4(
TYR
):c.34_35delinsGA;(p.S12D)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
PPP6C, a serine-threonine phosphatase, regulates melanocyte differentiation and contributes to melanoma tumorigenesis through modulation of MITF activity.
Scientific Reports
Maskin, Carolyn R CR; Raman, Renuka R; Houvras, Yariv Y
Publication Date: 2022-04-02
Variant appearance in text: TYR: S12D
PubMed Link:
35368039
Variant Present in the following documents:
Main text
41598_2022_Article_8936.pdf
View BVdb publication page
Molecular Interactions Associated with Coagulation of Organic Pollutants by 2S Albumin of Plant Proteins: A Computational Approach.
Molecules (Basel, Switzerland)
Adeleke, Victoria T VT; Madlala, Nkosinathi E NE; Adeniyi, Adebayo A AA; Lokhat, David D
Publication Date: 2022-03-04
Variant appearance in text: TYR: S12d
PubMed Link:
35268786
Variant Present in the following documents:
Main text
molecules-27-01685.pdf
View BVdb publication page
A single cell atlas of human cornea that defines its development, limbal progenitor cells and their interactions with the immune cells.
The Ocular Surface
Collin, Joseph J; Queen, Rachel R; Zerti, Darin D; Bojic, Sanja S; Dorgau, Birthe B; Moyse, Nicky N; Molina, Marina Moya MM; Yang, Chunbo C; Dey, Sunanda S; Reynolds, Gary G; Hussain, Rafiqul R; Coxhead, Jonathan M JM; Lisgo, Steven S; Henderson, Deborah D; Joseph, Agatha A; Rooney, Paul P; Ghosh, Saurabh S; Clarke, Lucy L; Connon, Che C; Haniffa, Muzlifah M; Figueiredo, Francisco F; Armstrong, Lyle L; Lako, Majlinda M
Publication Date: 2021-07
Variant appearance in text: TYR: S12D
PubMed Link:
33865984
Variant Present in the following documents:
Main text
View BVdb publication page
Direct conversion of mouse and human fibroblasts to functional melanocytes by defined factors.
Nature Communications
Yang, Ruifeng R; Zheng, Ying Y; Li, Ling L; Liu, Shujing S; Burrows, Michelle M; Wei, Zhi Z; Nace, Arben A; Herlyn, Meenhard M; Cui, Rutao R; Guo, Wei W; Cotsarelis, George G; Xu, Xiaowei X
Publication Date: 2014-12-16
Variant appearance in text: TYR: S12d
PubMed Link:
25510211
Variant Present in the following documents:
Main text
nihms641839.pdf
View BVdb publication page