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HP c.562G>C ;(p.G188R)
Variant ID: 16-72094130-G-C
NM_005143.3(
HP
):c.562G>C;(p.G188R)
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:
Regulatory RNA binding proteins contribute to the transcriptome-wide splicing alterations in human cellular senescence.
Aging
Dong, Qiongye Q; Wei, Lei L; Zhang, Michael Q MQ; Wang, Xiaowo X
Publication Date: 2018-06-24
Variant appearance in text: HP: G188R
PubMed Link:
29936497
Variant Present in the following documents:
aging-10-101485-s002.xlsx, sheet 10
View BVdb publication page
Amyloid-like Fibrils from an α-Helical Transmembrane Protein.
Biochemistry
Stroobants, Karen K; Kumita, Janet R JR; Harris, Nicola J NJ; Chirgadze, Dimitri Y DY; Dobson, Christopher M CM; Booth, Paula J PJ; Vendruscolo, Michele M
Publication Date: 2017-06-27
Variant appearance in text: HP: G188R
PubMed Link:
28493669
Variant Present in the following documents:
Main text
bi7b00157.pdf
View BVdb publication page