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

2 papers

NM_000892.5

p.G521R

c.1561G>C

Surrounding Variants

3 papers

NM_000892.5

p.G521R

c.1561G>A

1 paper

NM_000892.5

p.W522*

c.1566G>A

1 paper

NM_000892.5

p.V519E

c.1556T>A

1 paper

NM_000892.5

p.W518*

c.1554G>A

1 paper

NM_000892.5

p.W518*

c.1553G>A

2 papers

NM_000892.5

p.T512I

c.1535C>T

1 paper

NM_000892.5

p.G529Splc

c.1586-566A>G

1 paper

NM_000892.5

p.E497Splc

c.1489+162G>A

11 papers

NM_000892.5

p.C548Y

c.1643G>A

5 papers

NM_000892.5

p.R560Q

c.1679G>A

1 paper

NM_000892.5

p.Y495insFs

c.1484_1485insG

1 paper

NM_000892.5

p.L493delFs

c.1479delG