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.K1239_K1240Splc

c.3718-15A>C

Surrounding Variants

1 paper

NM_017954.11

p.T1241I

c.3722C>T

1 paper

NM_017954.11

p.R1246G

c.3736C>G

1 paper

NM_001009571.4

p.H1223Y

c.3667C>T

3 papers

NM_017954.11

p.R1266H

c.3797G>A

1 paper

NM_017954.11

p.S1275C

c.3824C>G

1 paper

NM_017954.11

p.T1286S

c.3856A>T

1 paper

NM_017954.11

p.T1286S

c.3857C>G

1 paper

NM_017954.11

p.G1296ins1

c.3887_3888insAAG

1 paper

NM_017954.11

p.T1233M

c.3698C>T

1 paper

NM_017954.11

p.M1211L

c.3631A>T

1 paper

NM_017954.11

p.M1211L

c.3631A>C