PMID: 30798934

cAMP-mediated regulation of melanocyte genomic instability: A melanoma-preventive strategy.

Advances in protein chemistry and structural biology
NC Holcomb, RM Bautista, SG Jarrett, KM Carter, MK Gober, JA D'Orazio
2019

20 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89986610-G-C MC1R c.944G>C p.Cys315Ser Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
13-103528002-G-C ERCC5 c.3310G>C p.Asp1104His Missense 15/15 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
19-45923653-A-G ERCC1 c.354T>C p.Asn118Asn Synonymous 4/10 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
19-44055726-T-C XRCC1 c.1196A>G p.Gln399Arg Missense 10/17 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
19-45854919-T-G ERCC2 c.2251A>C p.Lys751Gln Missense 23/23 -
14-104165753-G-A XRCC3 c.722C>T p.Thr241Met Missense 8/10 -
19-45867259-C-A ERCC2 c.934G>T p.Asp312Tyr Missense 10/23 -
19-45868309-T-G ERCC2 c.468A>C p.Arg156Arg Synonymous 6/23 -
16-14041958-T-C ERCC4 c.2505T>C p.Ser835Ser Synonymous 11/11 -
19-45854919-T-A ERCC2 c.2251A>T p.Lys751* Nonsense 23/23 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
19-45867259-C-T ERCC2 c.934G>A p.Asp312Asn Missense 10/23 -