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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CGB8

CGB8

9 papers

RefSeq Summary

This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 8 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha s...

Gene Aliases

HGNC Name

chorionic gonadotropin subunit beta 8

HGNC Previous Names

chorionic gonadotropin, beta polypeptide 8; chorionic gonadotropin beta subunit 8

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

3 papers

chr19:49047935 G>C

NM_033183.3

p.P73R

c.218C>G

Cys_knot

exact variant not in gnomAD10 overlapping SVs

2 papers

chr19:49047875 G>C

NM_033183.3

p.P93R

c.278C>G

Cys_knot

Exome: 0.7% (AC=4956, hom=20)Genome: 0.5% (AC=735, hom=3)10 overlapping SVs

1 paper

chr19:49048339 C>G

NM_033183.3

p.G17R

c.49G>C

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=3, hom=0)12 overlapping SVs

1 paper

chr19:49048339 C>T

NM_033183.3

p.G17R

c.49G>A

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=7, hom=0)12 overlapping SVs

1 paper

chr19:49048306 G>A

NM_033183.3

p.R28W

c.82C>T

Cys_knot

Exome: 0.0% (AC=93, hom=0)Genome: 0.0% (AC=21, hom=0)12 overlapping SVs

1 paper

chr19:49048243 C>T

NM_033183.3

p.V49I

c.145G>A

Cys_knot

Exome: 1.0% (AC=14383, hom=40)Genome: 0.8% (AC=1211, hom=3)12 overlapping SVs

1 paper

chr19:49048240 TG>T

NM_033183.3

p.V49delFs

c.147delG

Cys_knot

exact variant not in gnomAD12 overlapping SVs

1 paper

chr19:49047942 C>A

NM_033183.3

p.A71S

c.211G>T

Cys_knot

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:49047715 G>C

NM_033183.3

p.P146P

c.438C>G

Exome: 31.3% (AC=273187, hom=0)Genome: 21.5% (AC=19552, hom=1)10 overlapping SVs

1 paper

chr19:49047714 T>A

NM_033183.3

p.S147C

c.439A>T

exact variant not in gnomAD10 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."