Varaico: Literature-Extracted Genetic Variants

Gene:URI1
Variant:p.D306D

URI1

46 papers

RefSeq Summary

This gene encodes member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though int...

Pfam Domains

Prefoldinaa 37–152UCSCPrefoldin subunit

Gene Aliases

HGNC Name

URI1 prefoldin like chaperone

HGNC Alias Symbols

NNX3; FLJ10575; PPP1R19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003796.3
p.D306D
c.918T>C
Surrounding Variants
4 papers
NM_003796.3
p.D311del1
c.931_932delGAC
1 paper
NM_003796.3
p.D306_D307insFs
c.918_919insT
1 paper
NM_003796.3
p.D307fs
c.919_920fs
1 paper
NM_003796.3
p.D307D
c.921C>T
1 paper
NM_003796.3
p.D308H
c.922G>C
3 papers
NM_003796.3
p.D306_D307del1
c.918_920delTGA
3 papers
NM_003796.3
p.D305_D307del0
c.915_920del6
2 papers
NM_003796.3
p.S298_D299del2
c.892_896del6
1 paper
NM_003796.3
p.S298_D300del3
c.892_899del9
3 papers
NM_003796.3
p.C288C
c.864T>C
1 paper
NM_003796.3
p.C288_S289del1
c.864_866delTTC
1 paper
NM_003796.3
p.C288_S289del2
c.862_866del6
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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."