Varaico: Literature-Extracted Genetic Variants

Gene:NIT1
Variant:p.V253V

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.V253V
c.759A>G
Surrounding Variants
1 paper
NM_005600.3
p.C251Y
c.752G>A
1 paper
NM_005600.3
p.R261H
c.782G>A
1 paper
NM_005600.3
p.R243W
c.727C>T
2 papers
NM_005600.3
p.E287K
c.859G>A
1 paper
NM_005600.3
p.L291P
c.872T>C
1 paper
NM_005600.3
p.L318H
c.953T>A
1 paper
NM_005600.3
p.A236P
c.706G>C
1 paper
NM_005600.3
p.G230E
c.689G>A
1 paper
NM_005600.3
p.T224fs
c.670_671fs
1 paper
NM_005600.3
p.T224insFs
c.670dupA
1 paper
NM_005600.3
p.E221Q
c.661G>C
1 paper
NM_005600.3
p.Q217E
c.649C>G
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