PMID: 30327428

Sirtuin 1-mediated deacetylation of XPA DNA repair protein enhances its interaction with ATR protein and promotes cAMP-induced DNA repair of UV damage.

The Journal of biological chemistry
SG Jarrett, KM Carter, RM Bautista, D He, C Wang, JA D'Orazio
2018-12-07

15 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
3-134369771-GA-GG KY c.31_32delTCinsGG p.Ser11Gly Missense 1/11 -
9-100456015-T-G XPA c.199A>C p.Lys67Gln Missense 2/6 -
9-100447291-CT-GC XPA c.586_587delAGinsGC p.Ser196Ala Missense 5/6 -
22-41489043-CA-GT EP300 c.35_36delCAinsGT p.Ser12Cys Missense 1/31 -
22-41546131-T-G EP300 c.2746T>G p.Ser916Ala Missense 14/31 -
3-134369772-A-C KY c.31T>G p.Ser11Ala Missense 1/11 -
9-100456027-T-G XPA c.187A>C p.Lys63Gln Missense 2/6 -
22-41489042-T-G EP300 c.34T>G p.Ser12Ala Missense 1/31 -
3-142280130-CT-GC ATR c.1303_1304delAGinsGC p.Ser435Ala Missense 5/47 -
9-100447291-CT-GA XPA c.586_587delAGinsGA p.Ser196Asp Missense 5/6 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
3-142178084-G-A ATR c.7334C>T p.Pro2445Leu Missense 43/47 -
3-142297519-A-C ATR c.28T>G p.Ser10Ala Missense 1/47 -
9-100447235-T-G XPA c.643A>C p.Lys215Gln Missense 5/6 -