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

3 papers

NM_017954.11

p.F645V

c.1933T>G

Surrounding Variants

1 paper

NM_017954.11

p.D631H

c.1891G>C

1 paper

NM_017954.11

p.D631N

c.1891G>A

2 papers

NM_017954.11

p.M630T

c.1889T>C

1 paper

NM_017954.11

p.Q673R

c.2018A>G

1 paper

NM_017954.11

p.G685S

c.2053G>A

1 paper

NM_017954.11

p.H702Y

c.2104C>T