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.E241K

c.721G>A

Surrounding Variants

1 paper

NM_017954.11

p.E231V

c.692A>T

1 paper

NM_017954.11

p.L252L

c.756G>A

1 paper

NM_017954.11

p.M224V

c.670A>G

1 paper

NM_017954.11

p.P221P

c.663A>G

1 paper

NM_017954.11

p.C261S

c.781T>A

1 paper

NM_017954.11

p.C261S

c.782G>C

1 paper

NM_017954.11

p.Q220Q

c.660G>A

2 papers

NM_017954.11

p.R186W

c.556C>T

1 paper

NM_017954.11

p.I181_E182insFs

c.543_544insTA

1 paper

NM_017954.11

p.V176L

c.526G>C

1 paper

NM_017954.11

p.V163I

c.487G>A

2 papers

NM_017954.11

p.A160G

c.479C>G