Varaico: Literature-Extracted Genetic Variants

Gene:SCGN
Variant:p.L97F

SCGN

24 papers

RefSeq Summary

The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated cal...

Pfam Domains

EF-hand_1aa 109–137UCSCEF hand domain
EF-hand_5aa 156–178UCSCEF hand

Gene Aliases

HGNC Name

secretagogin, EF-hand calcium binding protein

HGNC Alias Symbols

SECRET; DJ501N12.8; SEGN; CALBL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006998.4
p.L97F
c.289C>T
Surrounding Variants
2 papers
NM_006998.4
p.R99C
c.295C>T
1 paper
NM_006998.4
p.R99H
c.296G>A
1 paper
NM_006998.4
p.R100W
c.298C>T
2 papers
NM_006998.4
p.R100Q
c.299G>A
1 paper
NM_006998.4
p.L104P
c.311T>C
1 paper
NM_006998.4
p.D105Y
c.313G>T
1 paper
NM_006998.4
p.S106R
c.316A>C
1 paper
NM_006998.4
p.S106R
c.318C>A
1 paper
NM_006998.4
p.S106R
c.318C>G
1 paper
NM_006998.4
p.S107R
c.319A>C
1 paper
NM_006998.4
p.M86I
c.258G>A
1 paper
NM_006998.4
p.M86I
c.258G>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."