Varaico: Literature-Extracted Genetic Variants

Gene:PUS3

PUS3

46 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding differ...

Pfam Domains

PseudoU_synth_1aa 212–330UCSCtRNA pseudouridine synthase

Gene Aliases

HGNC Name

pseudouridine synthase 3

HGNC Alias Symbols

FKSG32; DEG1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
10 papers
NM_031307.4
p.R435*
c.1303C>T
6 papers
NM_031307.4
p.Y71C
c.212A>G
6 papers
NM_031307.4
p.S394fs
c.1180_1181fs
5 papers
NM_031307.4
p.C114R
c.340T>C
5 papers
NM_031307.4
p.R166Q
c.497G>A
5 papers
NM_031307.4
p.L366P
c.1097T>C
4 papers
NM_031307.4
p.R19*
c.55C>T
4 papers
NM_031307.4
p.R280*
c.838C>T
4 papers
NM_031307.4
p.S394delFs
c.1181_1182delAG
3 papers
NM_031307.4
p.L21R
c.62T>G
3 papers
NM_031307.4
p.A46S
c.136G>T
3 papers
NM_031307.4
p.C190Y
c.569G>A
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