Varaico: Literature-Extracted Genetic Variants

PCSK9

1,547 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

Inhibitor_I9aa 118–193UCSCPeptidase inhibitor I9

Peptidase_S8aa 218–482UCSCSubtilase family

PCSK9_C1aa 490–572UCSCProprotein convertase subtilisin-like/kexin type 9 C-terminal domain

PCSK9_C2aa 576–641UCSCProprotein convertase subtilisin-like/kexin type 9 C-terminal domain

PCSK9_C3aa 643–723UCSCProprotein convertase subtilisin-like/kexin type 9 C-terminal domain

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 9

HGNC Previous Symbol

HCHOLA3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_174936.4

p.R499H

c.1496G>A

Surrounding Variants

2 papers

NM_174936.4

p.R499L

c.1496G>T

2 papers

NM_174936.4

p.R499G

c.1495C>G

4 papers

NM_174936.4

p.R499C

c.1495C>T

2 papers

NM_174936.4

p.E498A

c.1493A>C

1 paper

NM_174936.4

p.R499delFs

c.1496_1497delGC

6 papers

NM_174936.4

p.E498K

c.1492G>A

1 paper

NM_174936.4

p.E498*

c.1492G>T

1 paper

NM_174936.4

p.G497G

c.1491C>T

1 paper

NM_174936.4

p.E501A

c.1502A>C

1 paper

NM_174936.4

p.G497D

c.1490G>A

1 paper

NM_174936.4

p.E501_A502Splc

c.1503+1G>A

13 papers

NM_174936.4

p.R496Q

c.1487G>A