Varaico: Literature-Extracted Genetic Variants

Gene:SCG5
Variant:p.G175del1

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.G175del1
c.523_524delGGA
Surrounding Variants
1 paper
NM_001144757.3
p.K173R
c.518A>G
1 paper
NM_001144757.3
p.E176A
c.527A>C
1 paper
NM_001144757.3
p.R178*
c.532C>T
3 papers
NM_001144757.3
p.R178Q
c.533G>A
1 paper
NM_001144757.3
p.L168P
c.503T>C
1 paper
NM_001144757.3
p.L167L
c.501C>A
1 paper
NM_001144757.3
p.R181_S182Splc
c.544-1G>A
1 paper
NM_001144757.3
p.S182_V183insFs
c.546_547insG
1 paper
NM_001144757.3
p.L187_Q190delFs
c.560_569del10
1 paper
NM_001144757.3
p.L187P
c.560T>C
2 papers
NM_001144757.3
p.R191*
c.571A>T
1 paper
NM_001144757.3
p.D193insFs
c.578_579insG
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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."