Varaico: Literature-Extracted Genetic Variants

Gene:CHGB
Variant:p.R417H

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
5 papers
NM_001819.3
p.R417H
c.1250G>A
Surrounding Variants
2 papers
NM_001819.3
p.R420T
c.1259G>C
26 papers
NM_001819.3
p.P413L
c.1238C>T
1 paper
NM_001819.3
p.R427L
c.1280G>T
1 paper
NM_001819.3
p.F430V
c.1288T>G
1 paper
NM_001819.3
p.S432S
c.1296T>C
1 paper
NM_001819.3
p.R439T
c.1316G>C
1 paper
NM_001819.3
p.D395Y
c.1183G>T
1 paper
NM_001819.3
p.H446_R447del2
c.1336_1340del6
1 paper
NM_001819.3
p.H446Y
c.1336C>T
1 paper
NM_001819.3
p.H446_R447del1
c.1338_1340delCCG
3 papers
NM_001819.3
p.W381L
c.1142G>T
1 paper
NM_001819.3
p.G462A
c.1385G>C
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