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.S91R

c.271A>C

Surrounding Variants

1 paper

NM_003716.4

p.S91G

c.271A>G

1 paper

NM_003716.4

p.S91R

c.273C>G

1 paper

NM_003716.4

p.S91R

c.273C>A

1 paper

NM_003716.4

p.P92L

c.275C>T

1 paper

NM_003716.4

p.S93fs

c.277_278fs

1 paper

NM_003716.4

p.S82R

c.246C>G

1 paper

NM_003716.4

p.S82R

c.246C>A

1 paper

NM_003716.4

p.S82R

c.244A>C

1 paper

NM_003716.4

p.E103fs

c.307_308fs

1 paper

NM_003716.4

p.L78fs

c.232_233fs

1 paper

NM_003716.4

p.E103_E104delFs

c.307_310del4

1 paper

NM_003716.4

p.G77E

c.230G>A