Variant: rs387907164 

    present in Gene: UVSSA
    present in Chromosome: 4
    Position on Chromosome: 1348185
    Alleles of this Variant: T/C

rs387907164 in UVSSA gene and UV-SENSITIVE SYNDROME 3 PMID 22466612 2012 Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair.

PMID 22466611 2012 UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair.

PMID 22466610 2012 Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.