Varaico: Literature-Extracted Genetic Variants

Gene:PUS7
Variant:p.L214delFs

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
2 papers
NM_019042.5
p.L214delFs
c.640_641delAG
Surrounding Variants
2 papers
NM_019042.5
p.L214fs
c.640_641fs
1 paper
NM_019042.5
p.E219Q
c.655G>C
2 papers
NM_019042.5
p.E202_K203delFs
c.606_607delTC
1 paper
NM_019042.5
p.K201R
c.602A>G
1 paper
NM_019042.5
p.E198K
c.592G>A
1 paper
NM_019042.5
p.A236T
c.706G>A
1 paper
NM_019042.5
p.T172A
c.514A>G
3 papers
NM_019042.5
p.R133Splc
c.398+1G>T
1 paper
NM_019042.5
p.R133Splc
c.398+1G>A
1 paper
NM_019042.5
p.G128G
c.384A>T
4 papers
NM_019042.5
p.G128R
c.382G>C
4 papers
NM_019042.5
p.G128R
c.382G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."