Varaico: Literature-Extracted Genetic Variants

Gene:SCG5
Variant:p.G76A

SCG5

232 papers

RefSeq Summary

This gene encodes a secreted chaperone protein that prevents the aggregation of other secreted proteins, including proteins that are associated with neurodegenerative and metabolic disease. The encode...

Pfam Domains

Secretogranin_Vaa 22–160UCSCNeuroendocrine protein 7B2 precursor (Secretogranin V)

Gene Aliases

HGNC Name

secretogranin V

HGNC Previous Symbol

SGNE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001144757.3
p.G76A
c.227G>C
Surrounding Variants
1 paper
NM_001144757.3
p.G76Splc
c.226+2T>C
1 paper
NM_001144757.3
p.L68P
c.203T>C
1 paper
NM_001144757.3
p.M66L
c.196A>C
1 paper
NM_001144757.3
p.M66L
c.196A>T
1 paper
NM_001144757.3
p.H63N
c.187C>A
1 paper
NM_001144757.3
p.H63D
c.187C>G
1 paper
NM_001144757.3
p.E59K
c.175G>A
1 paper
NM_001144757.3
p.R57R
c.171A>T
1 paper
NM_001144757.3
p.R57*
c.169C>T
1 paper
NM_001144757.3
p.I53F
c.157A>T
1 paper
NM_001144757.3
p.G52R
c.154G>C
1 paper
NM_001144757.3
p.G46S
c.136G>A
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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."