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

Selected Variant

1 paper

NM_000892.5

p.G123R

c.367G>A

Surrounding Variants

1 paper

NM_000892.5

p.G123R

c.367G>C

1 paper

NM_000892.5

p.G123G

c.369A>G

1 paper

NM_000892.5

p.N127K

c.381T>A

1 paper

NM_000892.5

p.N127K

c.381T>G

1 paper

NM_000892.5

p.I115T

c.344T>C

4 papers

NM_000892.5

p.R113*

c.337C>T

1 paper

NM_000892.5

p.V134I

c.400G>A

1 paper

NM_000892.5

p.E136*

c.406G>T

3 papers

NM_000892.5

p.K139_R140insFs

c.417_418ins8

3 papers

NM_000892.5

p.R140fs

c.418_419fs

33 papers

NM_000892.5

p.S143N

c.428G>A

1 paper

NM_000892.5

p.S143T

c.428G>C