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.R253Splc

c.759-11A>T

Surrounding Variants

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

1 paper

NM_000892.5

p.P271_E273del0

c.813_818del6

1 paper

NM_000892.5

p.N274delFs

c.821delA

1 paper

NM_000892.5

p.N274D

c.820A>G

1 paper

NM_000892.5

p.N274fs

c.820_821fs

1 paper

NM_000892.5

p.Y279_S280del0

c.835_840del6

1 paper

NM_000892.5

p.P289S

c.865C>T

1 paper

NM_000892.5

p.E290delFs

c.870delA

1 paper

NM_000892.5

p.E290fs

c.868_869fs