Varaico: Literature-Extracted Genetic Variants

CADPS

125 papers

RefSeq Summary

This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosi...

Pfam Domains

C2_CAPSaa 419–518UCSCC2 domain of CAPS protein

PHaa 522–624UCSCPH domain

MUNaa 836–1255UCSCMUN domain

MUNaa 1252–1300UCSCMUN domain

Gene Aliases

HGNC Name

calcium dependent secretion activator

HGNC Alias Symbols

KIAA1121; CAPS1; UNC-31; CADPS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003716.4

p.P651T

c.1951C>A

Surrounding Variants

1 paper

NM_003716.4

p.L638R

c.1913T>G

1 paper

NM_003716.4

p.P632P

c.1896G>A

1 paper

NM_003716.4

p.R621Q

c.1862G>A

1 paper

NM_003716.4

p.R612H

c.1835G>A

1 paper

NM_003716.4

p.G585Splc

c.1753+1G>T

1 paper

NM_003716.4

p.L572L

c.1716G>A

4 papers

NM_003716.4

p.M556T

c.1667T>C