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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VNN2

VNN2

35 papers

RefSeq Summary

This gene product is a member of the Vanin family of proteins that share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated ...

Pfam Domains

CN_hydrolaseaa 51–266UCSCCarbon-nitrogen hydrolase

Vanin_Caa 337–487UCSCVanin C-terminal domain

Gene Aliases

HGNC Name

vanin 2

HGNC Alias Symbols

FOAP-4; GPI-80

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 37 variants

2 papers

chr6:132757747 G>A

NM_004665.6

p.S46F

c.137C>T

Exome: 0.3% (AC=4392, hom=9)Genome: 0.3% (AC=385, hom=0)74 overlapping SVs

2 papers

chr6:132757726 A>G

NM_004665.6

p.L53P

c.158T>C

CN_hydrolase

Exome: 0.0% (AC=365, hom=2)Genome: 0.2% (AC=253, hom=1)74 overlapping SVs

2 papers

chr6:132755860 C>T

NM_004665.6

p.V174M

c.520G>A

CN_hydrolase

Exome: 0.3% (AC=3729, hom=8)Genome: 0.2% (AC=368, hom=2)75 overlapping SVs

2 papers

chr6:132752672 C>A

NM_004665.6

p.R205S

c.615G>T

CN_hydrolase

Exome: 0.7% (AC=10323, hom=68)Genome: 0.7% (AC=1122, hom=9)73 overlapping SVs

2 papers

chr6:132752672 C>G

NM_004665.6

p.R205S

c.615G>C

CN_hydrolase

exact variant not in gnomAD73 overlapping SVs

2 papers

chr6:132751432 C>T

NM_004665.6

p.D305N

c.913G>A

CN_hydrolase

Exome: 1.4% (AC=20817, hom=176)Genome: 1.1% (AC=1643, hom=13)74 overlapping SVs

1 paper

chr6:132757727 G>C

NM_004665.6

p.L53V

c.157C>G

CN_hydrolase

Exome: 0.0% (AC=444, hom=0)Genome: 0.1% (AC=89, hom=1)74 overlapping SVs

1 paper

chr6:132757543 C>A

NM_004665.6

p.A73S

c.217G>T

CN_hydrolase

exact variant not in gnomAD74 overlapping SVs

1 paper

chr6:132757517 A>AT

NM_004665.6

p.D81insFs

c.242dupA

CN_hydrolase

exact variant not in gnomAD74 overlapping SVs

1 paper

chr6:132757503 C>T

NM_004665.6

p.W86*

c.257G>A

CN_hydrolase

Exome: 0.0% (AC=1, hom=0)Genome: n/a74 overlapping SVs

1 paper

chr6:132757502 C>T

NM_004665.6

p.W86*

c.258G>A

CN_hydrolase

exact variant not in gnomAD74 overlapping SVs

1 paper

chr6:132757495 T>A

NM_004665.6

p.T89S

c.265A>T

CN_hydrolase

exact variant not in gnomAD74 overlapping SVs

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