Varaico: Literature-Extracted Genetic Variants

KLKB1

179 papers

RefSeq Summary

This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasm...

Pfam Domains

PAN_1aa 1–66UCSCPAN domain

PAN_1aa 19–104UCSCPAN domain

PAN_1aa 73–156UCSCPAN domain

PAN_1aa 163–246UCSCPAN domain

PAN_1aa 254–337UCSCPAN domain

Trypsinaa 353–505UCSCTrypsin

Gene Aliases

HGNC Name

kallikrein B1

HGNC Previous Name

kallikrein B, plasma (Fletcher factor) 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 153 variants

33 papers

NM_000892.5

p.S143N

c.428G>A

11 papers

NM_000892.5

p.C548Y

c.1643G>A

5 papers

NM_000892.5

p.R560Q

c.1679G>A

4 papers

NM_000892.5

p.R113*

c.337C>T

4 papers

NM_000892.5

p.S151insFs

c.451dupT

3 papers

NM_000892.5

p.K139_R140insFs

c.417_418ins8

3 papers

NM_000892.5

p.R140fs

c.418_419fs

3 papers

NM_000892.5

p.S151fs

c.451_452fs

3 papers

NM_000892.5

p.I230N

c.689T>A

3 papers

NM_000892.5

p.L258F

c.772C>T

3 papers

NM_000892.5

p.F330I

c.988T>A

3 papers

NM_000892.5

p.H417_L418ins8

c.1249_1253ins24