Varaico: Literature-Extracted Genetic Variants

Gene:SCGN
Variant:p.R77H

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.R77H
c.230G>A
Surrounding Variants
1 paper
NM_006998.4
p.R77L
c.230G>T
1 paper
NM_006998.4
p.R77ins4
c.229_230ins12
2 papers
NM_006998.4
p.R77C
c.229C>T
1 paper
NM_006998.4
p.I78del1
c.232_234delATT
3 papers
NM_006998.4
p.R79W
c.235C>T
1 paper
NM_006998.4
p.D75V
c.224A>T
1 paper
NM_006998.4
p.R79Q
c.236G>A
1 paper
NM_006998.4
p.R79P
c.236G>C
1 paper
NM_006998.4
p.M80T
c.239T>C
1 paper
NM_006998.4
p.M80I
c.240G>A
1 paper
NM_006998.4
p.M80I
c.240G>C
1 paper
NM_006998.4
p.M80I
c.240G>T
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