PUS3 pseudouridine synthase 3

Canonical transcript: NM_031307

19 unique variant annotations were identified in 14 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
11-125763746-C-G c.1380G>C p.Glu460Asp Missense 4/4 - 3
11-125763746-C-T c.1380G>A p.Glu460Glu Synonymous 4/4 - 3
11-125763823-G-A c.1303C>T p.Arg435* Nonsense 4/4 - 2
11-125764029-A-G c.1097T>C p.Leu366Pro Missense 4/4 - 1
11-125764189-A-G c.945-8T>C - IntronicSNV - 3/3 1
11-125765239-A-G c.824T>C p.Leu275Pro Missense 3/4 - 1
11-125765528-G-A c.535C>T p.Pro179Ser Missense 3/4 - 1
11-125765566-C-T c.497G>A p.Arg166Gln Missense 3/4 - 1
11-125765636-C-T c.427G>A p.Glu143Lys Missense 3/4 - 1
11-125766044-C-A c.136G>T p.Ala46Ser Missense 2/4 - 5
11-125766044-C-G c.136G>C p.Ala46Pro Missense 2/4 - 5
11-125766106-A-G c.74T>C p.Val25Ala Missense 2/4 - 1
11-125766153-G-A c.27C>T p.Asn9Asn Synonymous 2/4 - 1
11-125766153-G-T c.27C>A p.Asn9Lys Missense 2/4 - 1
11-125766173-A-C c.7T>G p.Tyr3Asp Missense 2/4 - 2
11-125766179-T-C c.1A>G p.Met1? Missense 2/4 - 1
11-125769536-G-T c.-46-3311C>A - IntronicSNV - 1/3 1
11-125770425-A-C c.-47+2640T>G - intron_variant - 1/3 1
11-125772999-T-C c.-47+66A>G - intron_variant - 1/3 2