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

2 papers

NM_003716.4

p.K147_I148Splc

c.442-1G>C

Surrounding Variants

1 paper

NM_003716.4

p.I148fs

c.442_443fs

1 paper

NM_003716.4

p.K150K

c.450A>G

1 paper

NM_003716.4

p.Q151*

c.451C>T

1 paper

NM_003716.4

p.R159Q

c.476G>A

1 paper

NM_003716.4

p.E167A

c.500A>C

1 paper

NM_003716.4

p.A172S

c.514G>T