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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHGB

CHGB

130 papers

RefSeq Summary

This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides. [provided by RefSeq, Jan 200...

Pfam Domains

Graninaa 26–677UCSCGranin (chromogranin or secretogranin)

Gene Aliases

HGNC Name

chromogranin B

HGNC Previous Symbol

SCG1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 117 variants

26 papers

chr20:5923382 C>T

NM_001819.3

p.P413L

c.1238C>T

Granin

Exome: 6.0% (AC=87460, hom=5259)Genome: 11.8% (AC=17864, hom=1744)7 overlapping SVs

6 papers

chr20:5922421 T>A

NM_001819.3

p.S93T

c.277T>A

Granin

Exome: 27.6% (AC=402275, hom=57231)Genome: 23.5% (AC=35674, hom=4855)7 overlapping SVs

6 papers

chr20:5922677 G>A

NM_001819.3

p.R178Q

c.533G>A

Granin

Exome: 38.5% (AC=562604, hom=111100)Genome: 38.0% (AC=57816, hom=11403)7 overlapping SVs

6 papers

chr20:5923202 C>G

NM_001819.3

p.A353G

c.1058C>G

Granin

Exome: 39.5% (AC=576852, hom=117742)Genome: 46.7% (AC=70841, hom=17600)7 overlapping SVs

5 papers

chr20:5923394 G>A

NM_001819.3

p.R417H

c.1250G>A

Granin

Exome: 27.5% (AC=402435, hom=57158)Genome: 23.3% (AC=35402, hom=4809)7 overlapping SVs

4 papers

chr20:5922577 G>A

NM_001819.3

p.D145N

c.433G>A

Granin

Exome: 2.7% (AC=40102, hom=3055)Genome: 3.3% (AC=5021, hom=347)7 overlapping SVs

4 papers

chr20:5922742 A>C

NM_001819.3

p.N200H

c.598A>C

Granin

Exome: 5.9% (AC=85529, hom=4925)Genome: 10.8% (AC=16486, hom=1451)7 overlapping SVs

3 papers

chr20:5922636 TGAG>T

NM_001819.3

p.E169del1

c.505_506delGAG

Granin

Exome: 0.0% (AC=64, hom=0)Genome: 0.0% (AC=7, hom=0)7 overlapping SVs

3 papers

chr20:5922833 A>G

NM_001819.3

p.H230R

c.689A>G

Granin

Exome: 0.2% (AC=2550, hom=6)Genome: 0.1% (AC=223, hom=0)7 overlapping SVs

3 papers

chr20:5922839 G>A

NM_001819.3

p.R232Q

c.695G>A

Granin

Exome: 1.5% (AC=21674, hom=372)Genome: 1.5% (AC=2329, hom=44)7 overlapping SVs

3 papers

chr20:5922973 C>T

NM_001819.3

p.R277*

c.829C>T

Granin

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

3 papers

chr20:5923286 G>T

NM_001819.3

p.W381L

c.1142G>T

Granin

Exome: 0.4% (AC=6448, hom=37)Genome: 0.5% (AC=708, hom=7)7 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."