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PAH c.634_635delinsGC ;(p.L212A)
Variant ID: 12-103248985-AG-GC
NM_000277.1(
PAH
):c.634_635delinsGC;(p.L212A)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Solution structure of the mSin3A PAH2-Pf1 SID1 complex: a Mad1/Mxd1-like interaction disrupted by MRG15 in the Rpd3S/Sin3S complex.
Journal Of Molecular Biology
Kumar, Ganesan Senthil GS; Xie, Tao T; Zhang, Yongbo Y; Radhakrishnan, Ishwar I
Publication Date: 2011-05-20
Variant appearance in text: PAH: Leu212Ala
PubMed Link:
21440557
Variant Present in the following documents:
Main text
View BVdb publication page