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.Q432H

c.1296G>T

Surrounding Variants

1 paper

NM_003716.4

p.Q432H

c.1296G>C

1 paper

NM_003716.4

p.P415L

c.1244C>T

2 papers

NM_003716.4

p.S399L

c.1196C>T

1 paper

NM_003716.4

p.E386K

c.1156G>A

1 paper

NM_003716.4

p.P358T

c.1072C>A

1 paper

NM_003716.4

p.N353S

c.1058A>G

1 paper

NM_003716.4

p.S346F

c.1037C>T

1 paper

NM_003716.4

p.R325H

c.974G>A

1 paper

NM_003716.4

p.R325S

c.973C>A