Varaico: Literature-Extracted Genetic Variants

Gene:URI1
Variant:p.D250H

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
1 paper
NM_003796.3
p.D250H
c.748G>C
Surrounding Variants
1 paper
NM_003796.3
p.E247E
c.741A>G
1 paper
NM_003796.3
p.S243A
c.727T>G
1 paper
NM_003796.3
p.A257V
c.770C>T
1 paper
NM_003796.3
p.T241A
c.721A>G
1 paper
NM_003796.3
p.P231H
c.692C>A
1 paper
NM_003796.3
p.K230_P231del1
c.690_692delGCC
1 paper
NM_003796.3
p.G280_Q281del2
c.838_842del6
1 paper
NM_003796.3
p.G280_V282del3
c.838_845del9
1 paper
NM_003796.3
p.G280_Q281del1
c.840_842delTCA
1 paper
NM_003796.3
p.G280_V282del0
c.840_845del6
1 paper
NM_003796.3
p.C288_S289del2
c.862_866del6
1 paper
NM_003796.3
p.C288_S289del1
c.864_866delTTC
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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."