Varaico: Literature-Extracted Genetic Variants

Gene:PUS7
Variant:p.K12_R13insFs

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
1 paper
NM_019042.5
p.K12_R13insFs
c.36_37insG
Surrounding Variants
1 paper
NM_019042.5
p.S10_G14delFs
c.28_40del13
1 paper
NM_019042.5
p.G8S
c.22G>A
1 paper
NM_019042.5
p.S23G
c.67A>G
1 paper
NM_019042.5
p.P26Q
c.77C>A
5 papers
NM_019042.5
p.T30fs
c.88_89fs
4 papers
NM_019042.5
p.T30delFs
c.89_90delTG
1 paper
NM_019042.5
p.K32fs
c.94_95fs
1 paper
NM_019042.5
p.K32insFs
c.96dupA
1 paper
NM_019042.5
p.S36_E37insG
c.106_110ins3
1 paper
NM_019042.5
p.N49_D50delFs
c.147_148delCA
1 paper
NM_019042.5
p.V58M
c.172G>A
1 paper
NM_019042.5
p.P59_R60delFs
c.175_179del5
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