Varaico: Literature-Extracted Genetic Variants

Gene:SCGN
Variant:p.R11H

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
2 papers
NM_006998.4
p.R11H
c.32G>A
Surrounding Variants
1 paper
NM_006998.4
p.G10R
c.28G>A
1 paper
NM_006998.4
p.G10R
c.28G>C
1 paper
NM_006998.4
p.L9R
c.26T>G
1 paper
NM_006998.4
p.D13E
c.39C>A
1 paper
NM_006998.4
p.D13E
c.39C>G
1 paper
NM_006998.4
p.A14V
c.41C>T
1 paper
NM_006998.4
p.P7L
c.20C>T
1 paper
NM_006998.4
p.R5Q
c.14G>A
1 paper
NM_006998.4
p.W18*
c.53G>A
1 paper
NM_006998.4
p.W18*
c.54G>A
1 paper
NM_006998.4
p.Q19E
c.55C>G
1 paper
NM_006998.4
p.S3N
c.8G>A
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