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

1–12 of 139 variants

4 papers

NM_003716.4

p.M556T

c.1667T>C

3 papers

NM_003716.4

p.N1017I

c.3050A>T

3 papers

NM_003716.4

p.N1022S

c.3065A>G

2 papers

NM_003716.4

p.K147_I148Splc

c.442-1G>C

2 papers

NM_003716.4

p.S399L

c.1196C>T

2 papers

NM_003716.4

p.T1149K

c.3446C>A

2 papers

NM_003716.4

p.E1171G

c.3512A>G

1 paper

NM_003716.4

p.P4insFs

c.11dupC

1 paper

NM_003716.4

p.V15M

c.43G>A

1 paper

NM_003716.4

p.G50fs

c.148_149fs

1 paper

NM_003716.4

p.G51D

c.152G>A

1 paper

NM_003716.4

p.A69_G73del0

c.206_217del12