Varaico: Literature-Extracted Genetic Variants

Gene:NIT1
Variant:p.T66_C67delFs

NIT1

32 papers

RefSeq Summary

This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus a...

Pfam Domains

CN_hydrolaseaa 48–306UCSCCarbon-nitrogen hydrolase

Gene Aliases

HGNC Name

nitrilase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005600.3
p.T66_C67delFs
c.198_199delAT
Surrounding Variants
1 paper
NM_005600.3
p.A68fs
c.202_203fs
1 paper
NM_005600.3
p.D59D
c.177C>T
2 papers
NM_005600.3
p.E73Q
c.217G>C
1 paper
NM_005600.3
p.L46L
c.138G>T
1 paper
NM_005600.3
p.C44C
c.132C>T
1 paper
NM_005600.3
p.T98M
c.293C>T
1 paper
NM_005600.3
p.S102C
c.305C>G
1 paper
NM_005600.3
p.H146H
c.438C>T
1 paper
NM_005600.3
p.C29Y
c.86G>A
1 paper
NM_005600.3
p.G153R
c.457G>A
1 paper
NM_005600.3
p.G153R
c.457G>C
2 papers
NM_005600.3
p.F4V
c.10T>G
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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."