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.E290delFs

c.870delA

Surrounding Variants

1 paper

NM_000892.5

p.E290fs

c.868_869fs

1 paper

NM_000892.5

p.P298L

c.893C>T

1 paper

NM_000892.5

p.F302del1

c.904_906delTTT

1 paper

NM_000892.5

p.G303_G304ins8

c.907_911ins24

1 paper

NM_000892.5

p.F311V

c.931T>G

1 paper

NM_000892.5

p.K313N

c.939A>C

1 paper

NM_000892.5

p.K313N

c.939A>T

1 paper

NM_000892.5

p.M325T

c.974T>C

3 papers

NM_000892.5

p.F330I

c.988T>A

1 paper

NM_000892.5

p.D339N

c.1015G>A

1 paper

NM_000892.5

p.P289S

c.865C>T

1 paper

NM_000892.5

p.Y279_S280del0

c.835_840del6