Varaico: Literature-Extracted Genetic Variants

Gene:CHGB
Variant:p.K117fs

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001819.3
p.K117fs
c.349_350fs
Surrounding Variants
1 paper
NM_001819.3
p.E121K
c.361G>A
1 paper
NM_001819.3
p.G127V
c.380G>T
2 papers
NM_001819.3
p.G105G
c.315A>T
1 paper
NM_001819.3
p.G105A
c.314G>C
1 paper
NM_001819.3
p.R131R
c.391C>A
1 paper
NM_001819.3
p.R101K
c.302G>A
1 paper
NM_001819.3
p.S99Y
c.296C>A
1 paper
NM_001819.3
p.A134A
c.402G>C
1 paper
NM_001819.3
p.H96H
c.288C>T
1 paper
NM_001819.3
p.W139R
c.415T>C
6 papers
NM_001819.3
p.S93T
c.277T>A
1 paper
NM_001819.3
p.Y142H
c.424T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."