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

6 papers

NM_174936.4

p.R160Q

c.479G>A

Surrounding Variants

1 paper

NM_174936.4

p.I161F

c.481A>T

1 paper

NM_174936.4

p.I161_P163delFs

c.482_488del7

1 paper

NM_174936.4

p.T162I

c.485C>T

47 papers

NM_174936.4

p.N157K

c.471C>A

2 papers

NM_174936.4

p.P163T

c.487C>A

47 papers

NM_174936.4

p.N157K

c.471C>G

1 paper

NM_174936.4

p.P163S

c.487C>T

1 paper

NM_174936.4

p.L158del1

c.472_473delCTG

3 papers

NM_174936.4

p.W156*

c.468G>A

4 papers

NM_174936.4

p.W156*

c.467G>A

1 paper

NM_174936.4

p.W156L

c.467G>T

1 paper

NM_174936.4

p.R165G

c.493C>G