Varaico: Literature-Extracted Genetic Variants

Gene:PUS1
Variant:p.I163fs

PUS1

95 papers

RefSeq Summary

This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and...

Pfam Domains

PseudoU_synth_1aa 236–341UCSCtRNA pseudouridine synthase

Gene Aliases

HGNC Name

pseudouridine synthase 1

HGNC Alias Symbol

MLASA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_025215.6
p.I163fs
c.487_488fs
Surrounding Variants
6 papers
NM_025215.6
p.I163delFs
c.487delA
1 paper
NM_025215.6
p.I163I
c.489T>C
1 paper
NM_025215.6
p.K159N
c.477G>T
2 papers
NM_025215.6
p.Q154*
c.460C>T
1 paper
NM_025215.6
p.G148fs
c.442_443fs
1 paper
NM_025215.6
p.G182Splc
c.545-5C>A
1 paper
NM_025215.6
p.G189G
c.567G>A
1 paper
NM_025215.6
p.K193_N194insFs
c.579_580insT
1 paper
NM_025215.6
p.N194insFs
c.580_581insT
7 papers
NM_025215.6
p.E220*
c.658G>T
NM_001002019.3
p.E192*
c.574G>T
1 paper
NM_025215.6
p.L224P
c.671T>C
1 paper
NM_025215.6
p.Y239F
c.716A>T
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