Varaico: Literature-Extracted Genetic Variants

Gene:SCG5
Variant:p.L13R

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.L13R
c.38T>G
Surrounding Variants
1 paper
NM_001144757.3
p.G12D
c.35G>A
1 paper
NM_001144757.3
p.G12V
c.35G>T
1 paper
NM_001144757.3
p.L14Q
c.41T>A
1 paper
NM_001144757.3
p.L14P
c.41T>C
1 paper
NM_001144757.3
p.G12C
c.34G>T
1 paper
NM_001144757.3
p.W16C
c.48G>C
1 paper
NM_001144757.3
p.W16C
c.48G>T
1 paper
NM_001144757.3
p.L17P
c.50T>C
1 paper
NM_001144757.3
p.L17L
c.51G>A
1 paper
NM_001144757.3
p.A18T
c.52G>A
1 paper
NM_001144757.3
p.T8A
c.22A>G
1 paper
NM_001144757.3
p.S7C
c.20C>G
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