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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VNN1

VNN1

83 papers

RefSeq Summary

This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated p...

Pfam Domains

CN_hydrolaseaa 50–305UCSCCarbon-nitrogen hydrolase

Vanin_Caa 331–483UCSCVanin C-terminal domain

Gene Aliases

HGNC Name

vanin 1

HGNC Alias Symbol

Tiff66

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 73 variants

8 papers

chr6:132694132 T>C

NM_004666.3

p.N131S

c.392A>G

CN_hydrolase

Exome: 27.1% (AC=395397, hom=54777)Genome: 24.1% (AC=36609, hom=4693)73 overlapping SVs

6 papers

chr6:132713959 G>A

NM_004666.3

p.T26I

c.77C>T

Exome: 39.5% (AC=577579, hom=120180)Genome: 52.6% (AC=80004, hom=24125)72 overlapping SVs

4 papers

chr6:132693305 A>C

NM_004666.3

p.F182C

c.545T>G

CN_hydrolase

Exome: 0.0% (AC=387, hom=0)Genome: n/a73 overlapping SVs

2 papers

chr6:132713899 C>A

NM_004666.3

p.R46L

c.137G>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a72 overlapping SVs

2 papers

chr6:132713848 G>A

NM_004666.3

p.A63V

c.188C>T

CN_hydrolase

Exome: 0.3% (AC=4384, hom=14)Genome: 0.2% (AC=316, hom=1)72 overlapping SVs

1 paper

chr6:132714029 T>C

NM_004666.3

p.T3A

c.7A>G

exact variant not in gnomAD72 overlapping SVs

1 paper

chr6:132714028 G>C

NM_004666.3

p.T3S

c.8C>G

exact variant not in gnomAD72 overlapping SVs

1 paper

chr6:132714028 G>T

NM_004666.3

p.T3N

c.8C>A

exact variant not in gnomAD72 overlapping SVs

1 paper

chr6:132714000 C>A

NM_004666.3

p.L12F

c.36G>T

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=3, hom=0)72 overlapping SVs

1 paper

chr6:132714000 C>G

NM_004666.3

p.L12F

c.36G>C

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)72 overlapping SVs

1 paper

chr6:132713994 G>C

NM_004666.3

p.F14L

c.42C>G

exact variant not in gnomAD72 overlapping SVs

1 paper

chr6:132713974 C>A

NM_004666.3

p.C21F

c.62G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a72 overlapping SVs

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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."