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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINB10

SERPINB10

76 papers

RefSeq Summary

This gene is a member of the serpin peptidase inhibitor, clade B family and is found in a cluster of other similar genes on chromosome 18. The protein encoded by this gene appears to help control the ...

Pfam Domains

Serpinaa 6–397UCSCSerpin (serine protease inhibitor)

Gene Aliases

HGNC Name

serpin family B member 10

HGNC Previous Symbol

PI10

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 64 variants

4 papers

chr18:63919833 C>T

NM_005024.3

p.P140S

c.418C>T

Serpin

Exome: 23.3% (AC=337296, hom=46081)Genome: 37.2% (AC=56564, hom=14053)20 overlapping SVs

3 papers

chr18:63915633 A>G

NM_005024.3

p.I41M

c.123A>G

Serpin

Exome: 23.6% (AC=345070, hom=48469)Genome: 39.0% (AC=59155, hom=15935)20 overlapping SVs

3 papers

chr18:63919819 G>A

NM_005024.3

p.G135D

c.404G>A

Serpin

Exome: 3.3% (AC=48349, hom=3246)Genome: 11.2% (AC=16975, hom=2210)20 overlapping SVs

3 papers

chr18:63933150 C>T

NM_005024.3

p.R246C

c.736C>T

Serpin

Exome: 28.7% (AC=419302, hom=65027)Genome: 41.2% (AC=62648, hom=15789)20 overlapping SVs

2 papers

chr18:63915517 T>G

NM_005024.3

p.S3A

c.7T>G

Exome: 19.9% (AC=288063, hom=30461)Genome: 26.0% (AC=39529, hom=5795)20 overlapping SVs

2 papers

chr18:63917504 G>GA

NM_005024.3

p.E73insFs

c.217_218insA

Serpin

Exome: 0.1% (AC=1300, hom=1)Genome: 0.0% (AC=23, hom=0)20 overlapping SVs

2 papers

chr18:63917513 A>AN

NM_005024.3

p.R76fs

c.226_227fs

Serpin

exact variant not in gnomAD20 overlapping SVs

2 papers

chr18:63918026 T>C

NM_005024.3

p.I99T

c.296T>C

Serpin

Exome: 19.6% (AC=286712, hom=29328)Genome: 23.6% (AC=35879, hom=4503)21 overlapping SVs

2 papers

chr18:63935126 G>A

NM_005024.3

p.D360N

c.1078G>A

Serpin

Exome: 9.5% (AC=138253, hom=7423)Genome: 6.8% (AC=10302, hom=513)21 overlapping SVs

1 paper

chr18:63915511 A>AT

NM_005024.3

p.M1insFs

c.2_3insT

exact variant not in gnomAD20 overlapping SVs

1 paper

chr18:63915511 A>G

NM_005024.3

p.M1V

c.1A>G

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)20 overlapping SVs

1 paper

chr18:63915514 G>GNNN

NM_005024.3

p.D2_S3insT

c.4_8ins3

exact variant not in gnomAD20 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."