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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PVR

PVR

124 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronec...

Pfam Domains

V-setaa 32–142UCSCImmunoglobulin V-set domain

C2-set_2aa 147–232UCSCCD80-like C2-set immunoglobulin domain

Gene Aliases

HGNC Name

PVR cell adhesion molecule

HGNC Previous Symbol

PVS

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 54 variants

18 papers

chr19:44647342 G>A

NM_006505.5

p.A67T

c.199G>A

V-set

Exome: 5.9% (AC=86357, hom=3724)Genome: 5.8% (AC=8830, hom=331)10 overlapping SVs

7 papers

chr19:44650057 G>A

NM_006505.5

p.E226K

c.676G>A

C2-set_2

Exome: 0.1% (AC=1036, hom=16)Genome: 0.1% (AC=183, hom=2)10 overlapping SVs

2 papers

chr19:44649841 G>C

NM_006505.5

p.V154L

c.460G>C

C2-set_2

Exome: 0.2% (AC=2986, hom=7)Genome: 0.2% (AC=285, hom=0)10 overlapping SVs

2 papers

chr19:44653987 A>G

NM_006505.5

p.N271S

c.812A>G

Exome: 0.0% (AC=389, hom=0)Genome: 0.0% (AC=46, hom=1)11 overlapping SVs

2 papers

chr19:44657821 C>T

NM_006505.5

p.P301L

c.902C>T

Exome: n/aGenome: 0.0% (AC=3, hom=0)8 overlapping SVs

1 paper

chr19:44644117 C>T

NM_006505.5

p.A7A

c.21C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:44644125 C>T

NM_006505.5

p.P10L

c.29C>T

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr19:44644150 GC>G

NM_006505.5

p.L19delFs

c.55delC

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:44644164 C>G

NM_006505.5

p.P23R

c.68C>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:44647250 A>G

NM_006505.5

p.Q36R

c.107A>G

V-set

Exome: 0.0% (AC=53, hom=0)Genome: 0.0% (AC=15, hom=0)10 overlapping SVs

1 paper

chr19:44647258 G>A

NM_006505.5

p.G39S

c.115G>A

V-set

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:44647279 A>T

NM_006505.5

p.T46S

c.136A>T

V-set

exact variant not in gnomAD10 overlapping SVs

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