Varaico: Literature-Extracted Genetic Variants

Gene:SCG5
Variant:p.I40L

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.I40L
c.118A>C
Surrounding Variants
1 paper
NM_001144757.3
p.I40T
c.119T>C
1 paper
NM_001144757.3
p.D39G
c.116A>G
1 paper
NM_001144757.3
p.Q41R
c.122A>G
1 paper
NM_001144757.3
p.R42R
c.124A>C
1 paper
NM_001144757.3
p.L44P
c.131T>C
1 paper
NM_001144757.3
p.V35A
c.104T>C
1 paper
NM_001144757.3
p.V35L
c.103G>C
1 paper
NM_001144757.3
p.R34R
c.102G>A
1 paper
NM_001144757.3
p.G46S
c.136G>A
1 paper
NM_001144757.3
p.G52R
c.154G>C
1 paper
NM_001144757.3
p.Y27*
c.81C>A
1 paper
NM_001144757.3
p.Y27*
c.81C>G
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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."