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HERC2 c.14284_14285delinsGC ;(p.C4762A)
Variant ID: 15-28357129-CA-GC
NM_004667.5(
HERC2
):c.14284_14285delinsGC;(p.C4762A)
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:
Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2.
The Journal Of Biological Chemistry
Kühnle, Simone S; Kogel, Ulrike U; Glockzin, Sandra S; Marquardt, Andreas A; Ciechanover, Aaron A; Matentzoglu, Konstantin K; Scheffner, Martin M
Publication Date: 2011-06-03
Variant appearance in text: HERC2: C4762A
PubMed Link:
21493713
Variant Present in the following documents:
Main text
View BVdb publication page
Regulation of nucleotide excision repair activity by transcriptional and post-transcriptional control of the XPA protein.
Nucleic Acids Research
Kang, Tae-Hong TH; Reardon, Joyce T JT; Sancar, Aziz A
Publication Date: 2011-04
Variant appearance in text: HERC2: C4762A
PubMed Link:
21193487
Variant Present in the following documents:
Main text
gkq1318.pdf
View BVdb publication page