Varaico: Literature-Extracted Genetic Variants

Gene:CHGA
Variant:p.E246D

CHGA

203 papers

RefSeq Summary

The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene ...

Pfam Domains

Graninaa 25–93UCSCGranin (chromogranin or secretogranin)
Graninaa 85–457UCSCGranin (chromogranin or secretogranin)

Gene Aliases

HGNC Name

chromogranin A

HGNC Alias Symbols

PHE5; PHES

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001275.4
p.E246D
c.738G>C
Surrounding Variants
4 papers
NM_001275.4
p.E246D
c.738G>T
1 paper
NM_001275.4
p.P245insFs
c.734_735ins28
1 paper
NM_001275.4
p.E248D
c.744A>C
1 paper
NM_001275.4
p.E248D
c.744A>T
2 papers
NM_001275.4
p.G240E
c.719G>A
1 paper
NM_001275.4
p.G240A
c.719G>C
1 paper
NM_001275.4
p.V253A
c.758T>C
1 paper
NM_001275.4
p.E234G
c.701A>G
1 paper
NM_001275.4
p.S259N
c.776G>A
1 paper
NM_001275.4
p.E230A
c.689A>C
2 papers
NM_001275.4
p.E229del1
c.685_687delGAG
1 paper
NM_001275.4
p.E264D
c.792G>C
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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."