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.E1171G

c.3512A>G

Surrounding Variants

1 paper

NM_003716.4

p.I1170T

c.3509T>C

1 paper

NM_003716.4

p.E1176G

c.3527A>G

1 paper

NM_003716.4

p.Y1162C

c.3485A>G

1 paper

NM_003716.4

p.H1160fs

c.3478_3479fs

1 paper

NM_003716.4

p.E1159insFs

c.3476_3477ins13

1 paper

NM_003716.4

p.M1154V

c.3460A>G

2 papers

NM_003716.4

p.T1149K

c.3446C>A

1 paper

NM_003716.4

p.A1144V

c.3431C>T