Varaico: Literature-Extracted Genetic Variants

Gene:PUS7
Variant:p.R450*

PUS7

66 papers

Pfam Domains

TruDaa 239–642UCSCtRNA pseudouridine synthase D (TruD)

Gene Aliases

HGNC Name

pseudouridine synthase 7

HGNC Alias Symbol

FLJ20485

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_019042.5
p.R450*
c.1348C>T
Surrounding Variants
1 paper
NM_019042.5
p.N459Y
c.1375A>T
1 paper
NM_019042.5
p.V440I
c.1318G>A
1 paper
NM_019042.5
p.R436K
c.1307G>A
1 paper
NM_019042.5
p.K415N
c.1245G>T
1 paper
NM_019042.5
p.K415N
c.1245G>C
1 paper
NM_019042.5
p.R472C
c.1414C>T
1 paper
NM_019042.5
p.K490N
c.1470G>T
1 paper
NM_019042.5
p.K490N
c.1470G>C
1 paper
NM_019042.5
p.R491T
c.1472G>C
6 papers
NM_019042.5
p.D503Y
c.1507G>T
1 paper
NM_019042.5
p.P530T
c.1588C>A
1 paper
NM_019042.5
p.D535A
c.1604A>C
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