Varaico: Literature-Extracted Genetic Variants

Gene:URI1
Variant:p.L100delFs

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.L100delFs
c.298_299delCT
Surrounding Variants
1 paper
NM_003796.3
p.L100del1
c.298_300delCTG
1 paper
NM_003796.3
p.D102G
c.305A>G
1 paper
NM_003796.3
p.V96_T97delFs
c.288_289delCA
1 paper
NM_003796.3
p.N94delFs
c.280_281delAA
1 paper
NM_003796.3
p.N94del1
c.280_282delAAT
1 paper
NM_003796.3
p.V91A
c.272T>C
1 paper
NM_003796.3
p.Y74_N75delFs
c.222_223delTA
1 paper
NM_003796.3
p.S73P
c.217T>C
1 paper
NM_003796.3
p.L61I
c.181C>A
1 paper
NM_003796.3
p.L61F
c.181C>T
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