NUPR1 nuclear protein 1, transcriptional regulator

Canonical transcript: NM_012385

13 unique variant annotations were identified in 22 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
16-28545587-G-A c.*3417C>T - 3_prime_UTR_variant 3/3 - 7
16-28545587-G-C c.*3417C>G - 3_prime_UTR_variant 3/3 - 7
16-28545587-G-T c.*3417C>A - 3_prime_UTR_variant 3/3 - 7
16-28545785-A-G c.*3555T>C - IntergenicSNV 3/3 - 4
16-28549357-G-A c.232C>T p.Arg78* Nonsense 2/3 - 1
16-28549383-TT-GC c.205_206delinsGC p.Lys69Ala Missense 2/3 - 1
16-28549385-GGT-CAA c.202_204delinsTTG p.Thr68Leu Missense 2/3 - 2
16-28549385-GGT-GAG c.202_203delinsCT p.Thr68Leu Missense 2/3 - 1
16-28549395-TT-GC c.193_194delinsGC p.Lys65Ala Missense 2/3 - 1
16-28549508-G-A c.113-32C>T - IntronicSNV - 1/2 3
16-28549823-A-C c.112+294T>G - IntronicSNV - 1/2 3
16-28550130-GGC-CAA c.97_99delinsTTG p.Ala33Leu Missense 1/3 - 2
16-28550269-C-T c.-41G>A - 5-UTRSNV 1/3 - 1