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.R218W

c.652A>T

Surrounding Variants

1 paper

NM_000892.5

p.D215_A224delFs

c.645_670del26

2 papers

NM_000892.5

p.A210E

c.629C>A

3 papers

NM_000892.5

p.I230N

c.689T>A

1 paper

NM_000892.5

p.F239_F240del1

c.717_719delCTT

1 paper

NM_000892.5

p.F240del1

c.718_719delTTT

1 paper

NM_000892.5

p.E250fs

c.748_749fs

1 paper

NM_000892.5

p.E250_S251insFs

c.750_751ins31

1 paper

NM_000892.5

p.R253Splc

c.759-11A>T

1 paper

NM_000892.5

p.L257P

c.770T>C

3 papers

NM_000892.5

p.L258F

c.772C>T

1 paper

NM_000892.5

p.K259Q

c.775A>C

1 paper

NM_000892.5

p.S261C

c.782C>G