Varaico: Literature-Extracted Genetic Variants

Gene:CHGB
Variant:p.H230R

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
3 papers
NM_001819.3
p.H230R
c.689A>G
Surrounding Variants
1 paper
NM_001819.3
p.R232*
c.694C>T
3 papers
NM_001819.3
p.R232Q
c.695G>A
1 paper
NM_001819.3
p.E227V
c.680A>T
1 paper
NM_001819.3
p.S225F
c.674C>T
1 paper
NM_001819.3
p.S225P
c.673T>C
1 paper
NM_001819.3
p.H224P
c.671A>C
1 paper
NM_001819.3
p.A222_G223ins1
c.666_667insGGC
1 paper
NM_001819.3
p.T243A
c.727A>G
1 paper
NM_001819.3
p.H249Y
c.745C>T
1 paper
NM_001819.3
p.K210delFs
c.630delA
1 paper
NM_001819.3
p.Q204L
c.611A>T
2 papers
NM_001819.3
p.R258Q
c.773G>A
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."