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.R350K

c.1049G>A

Surrounding Variants

1 paper

NM_000892.5

p.L351F

c.1053A>C

1 paper

NM_000892.5

p.L351F

c.1053A>T

1 paper

NM_000892.5

p.D354N

c.1060G>A

1 paper

NM_000892.5

p.G355C

c.1063G>T

1 paper

NM_000892.5

p.C345S

c.1033T>A

1 paper

NM_000892.5

p.C375R

c.1123T>C

1 paper

NM_000892.5

p.C375Y

c.1124G>A

2 papers

NM_000892.5

p.S381A

c.1141T>G

1 paper

NM_000892.5

p.S381delFs

c.1142delC

1 paper

NM_000892.5

p.D339N

c.1015G>A

3 papers

NM_000892.5

p.F330I

c.988T>A

1 paper

NM_000892.5

p.M325T

c.974T>C