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.L493delFs

c.1479delG

Surrounding Variants

1 paper

NM_000892.5

p.Y495insFs

c.1484_1485insG

1 paper

NM_000892.5

p.D483Y

c.1447G>T

1 paper

NM_000892.5

p.N481_K488del8

c.1441_1463del24

1 paper

NM_000892.5

p.N474I

c.1421A>T

1 paper

NM_000892.5

p.L454Q

c.1361T>A

1 paper

NM_000892.5

p.I447T

c.1340T>C

1 paper

NM_000892.5

p.R446H

c.1337G>A

1 paper

NM_000892.5

p.V444D

c.1331T>A

1 paper

NM_000892.5

p.V444_W445insT

c.1330_1334ins3

1 paper

NM_000892.5

p.Q442P

c.1325A>C

1 paper

NM_000892.5

p.E497Splc

c.1489+162G>A

1 paper

NM_000892.5

p.G438Splc

c.1314-285C>T