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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CGB5

CGB5

9 papers

RefSeq Summary

This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 5 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha s...

Gene Aliases

HGNC Name

chorionic gonadotropin subunit beta 5

HGNC Previous Names

chorionic gonadotropin, beta polypeptide 5; chorionic gonadotropin beta subunit 5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr19:49045022 G>C

NM_033043.2

p.V76L

c.226G>C

Cys_knot

Exome: 0.0% (AC=2, hom=0)Genome: n/a10 overlapping SVs

2 papers

chr19:49045022 G>T

NM_033043.2

p.V76L

c.226G>T

Cys_knot

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:49044582 G>C

NM_033043.2

p.L7L

c.21G>C

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:49045014 C>G

NM_033043.2

p.P73R

c.218C>G

Cys_knot

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:49045021 G>T

NM_033043.2

p.V75V

c.225G>T

Cys_knot

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:49045091 G>A

NM_033043.2

p.V99M

c.295G>A

Cys_knot

Exome: 0.0% (AC=106, hom=0)Genome: 0.0% (AC=17, hom=0)10 overlapping SVs

1 paper

chr19:49045097 T>C

NM_033043.2

p.S101P

c.301T>C

Cys_knot

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

1 paper

chr19:49045254 G>A

NM_033043.2

p.R153Q

c.458G>A

exact variant not in gnomAD10 overlapping SVs

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