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.S397S

c.1191T>C

Surrounding Variants

1 paper

NM_000892.5

p.W399*

c.1196G>A

1 paper

NM_000892.5

p.W399*

c.1197G>A

2 papers

NM_000892.5

p.G400*

c.1198G>T

1 paper

NM_000892.5

p.G400A

c.1199G>C

1 paper

NM_000892.5

p.G400V

c.1199G>T

1 paper

NM_000892.5

p.E401Q

c.1201G>C

1 paper

NM_000892.5

p.E401_W402delFs

c.1203_1204delGT

1 paper

NM_000892.5

p.E401D

c.1203G>C

1 paper

NM_000892.5

p.E401D

c.1203G>T

1 paper

NM_000892.5

p.W402fs

c.1204_1205fs

1 paper

NM_000892.5

p.W402*

c.1205G>A

1 paper

NM_000892.5

p.W402*

c.1206G>A