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

1 paper

NM_174936.4

p.S447C

c.1339A>T

Surrounding Variants

1 paper

NM_174936.4

p.S447fs

c.1339_1340fs

5 papers

NM_174936.4

p.P446L

c.1337C>T

1 paper

NM_174936.4

p.T448delFs

c.1343delC

2 papers

NM_174936.4

p.P446S

c.1336C>T

1 paper

NM_174936.4

p.P445L

c.1334C>T

1 paper

NM_174936.4

p.H449_G450del2

c.1345_1349del6

1 paper

NM_174936.4

p.P445S

c.1333C>T

1 paper

NM_174936.4

p.H449R

c.1346A>G

2 papers

NM_174936.4

p.H449L

c.1346A>T

1 paper

NM_174936.4

p.P446_S447insFs

c.1338_1339insC

1 paper

NM_174936.4

p.L444insFs

c.1332dupG

1 paper

NM_174936.4

p.L444_P445insCT

c.1330_1334ins6