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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CGB1

CGB1

10 papers

RefSeq Summary

The beta subunit of chorionic gonadotropin (CGB) is encoded by six highly homologous and structurally similar genes that are arranged in tandem and inverted pairs on chromosome 19q13.3, and contiguous...

Gene Aliases

HGNC Name

chorionic gonadotropin subunit beta 1

HGNC Previous Names

chorionic gonadotropin, beta polypeptide 1; chorionic gonadotropin beta subunit 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr19:49035674 T>G

NM_033377.2

p.D135A

c.404A>C

Exome: 0.3% (AC=3757, hom=23)Genome: 0.9% (AC=1269, hom=13)10 overlapping SVs

1 paper

chr19:49036711 T>A

NM_033377.2

p.M1L

c.1A>T

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:49036303 T>C

NM_033377.2

p.R4G

c.10A>G

Exome: 20.1% (AC=233993, hom=50419)Genome: 25.0% (AC=37610, hom=4843)10 overlapping SVs

1 paper

chr19:49036204 C>T

NM_033377.2

p.E37K

c.109G>A

Exome: 0.0% (AC=372, hom=0)Genome: 0.0% (AC=21, hom=0)10 overlapping SVs

1 paper

chr19:49036158 C>G

NM_033377.2

p.C52S

c.155G>C

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:49035648 G>T

NM_033377.2

p.P144T

c.430C>A

Exome: 0.0% (AC=21, hom=0)Genome: n/a10 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."