Varaico: Literature-Extracted Genetic Variants

CADPS2

83 papers

RefSeq Summary

This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in...

Pfam Domains

C2_CAPSaa 386–484UCSCC2 domain of CAPS protein

PHaa 488–590UCSCPH domain

MUNaa 801–1200UCSCMUN domain

MUNaa 1197–1245UCSCMUN domain

Gene Aliases

HGNC Name

calcium dependent secretion activator 2

HGNC Previous Names

Ca++-dependent activator protein for secretion 2; Ca2+ dependent secretion activator 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017954.11

p.D1011E

c.3033C>A

Surrounding Variants

1 paper

NM_017954.11

p.D1011E

c.3033C>G

1 paper

NM_017954.11

p.L1012H

c.3035T>A

1 paper

NM_017954.11

p.D1088N

c.3262G>A

1 paper

NM_017954.11

p.P988A

c.2962C>G

1 paper

NM_017954.11

p.E957G

c.2870A>G

1 paper

NM_017954.11

p.Q928*

c.2782C>T

2 papers

NM_017954.11

p.D1112N

c.3334G>A

2 papers

NM_017954.11

p.D1113N

c.3337G>A