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.T1149K

c.3446C>A

Surrounding Variants

1 paper

NM_003716.4

p.M1154V

c.3460A>G

1 paper

NM_003716.4

p.A1144V

c.3431C>T

1 paper

NM_003716.4

p.E1159insFs

c.3476_3477ins13

1 paper

NM_003716.4

p.A1073T

c.3217G>A

1 paper

NM_003716.4

p.S1064L

c.3191C>T

1 paper

NM_003716.4

p.D1058H

c.3172G>C

1 paper

NM_003716.4

p.D1058H

c.3172G>C

1 paper

NM_003716.4

p.A1057A

c.3171G>T

1 paper

NM_003716.4

p.M1051V

c.3151A>G

1 paper

NM_003716.4

p.P1043P

c.3129T>C

1 paper

NM_003716.4

p.Q1041Q

c.3123A>G

1 paper

NM_003716.4

p.Q1041K

c.3121C>A