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.E54D

c.162A>C

Surrounding Variants

1 paper

NM_174936.4

p.A55_T60del6

c.163_179del18

12 papers

NM_174936.4

p.E54A

c.161A>C

6 papers

NM_174936.4

p.A53G

c.158C>G

71 papers

NM_174936.4

p.A53V

c.158C>T

1 paper

NM_174936.4

p.A53T

c.157G>A

1 paper

NM_174936.4

p.P56P

c.168C>T

1 paper

NM_174936.4

p.L52_A53delins

c.156_158delinsAGT

20 papers

NM_174936.4

p.E57K

c.169G>A

2 papers

NM_174936.4

p.E57*

c.169G>T

1 paper

NM_174936.4

p.L52R

c.155T>G

1 paper

NM_174936.4

p.L52_H58del0

c.156_173del18

1 paper

NM_174936.4

p.G51G

c.153C>G