Varaico: Literature-Extracted Genetic Variants

PCSK5

198 papers

RefSeq Summary

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branc...

Pfam Domains

S8_pro-domainaa 38–114UCSCPeptidase S8 pro-domain

Peptidase_S8aa 162–445UCSCSubtilase family

P_proproteinaa 505–595UCSCProprotein convertase P-domain

GF_recep_IVaa 635–757UCSCGrowth factor receptor domain IV

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 5

HGNC Alias Symbols

PC5; PC6; SPC6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001372043.1

p.E1414Q

c.4240G>C

Surrounding Variants

1 paper

NM_001372043.1

p.G1426R

c.4276G>A

1 paper

NM_001190482.2

p.C1368R

c.4102T>C

1 paper

NM_001190482.2

p.R1366H

c.4097G>A

2 papers

NM_001372043.1

p.E1441_T1442delFs

c.4321_4325del5

2 papers

NM_001190482.2

p.T1343M

c.4028C>T

NM_001372043.1

p.T1370M

c.4109C>T

1 paper

NM_001372043.1

p.T1370P

c.4108A>C

3 papers

NM_001372043.1

p.C1366Y

c.4097G>A

1 paper

NM_001190482.2

p.K1320E

c.3958A>G

1 paper

NM_001190482.2

p.V1307fs

c.3919_3920fs

1 paper

NM_001190482.2

p.H1305_G1306insFs

c.3915_3916insG

1 paper

NM_001372043.1

p.V1329G

c.3986T>G

3 papers

NM_001372043.1

p.N1320D

c.3958A>G