Varaico: Literature-Extracted Genetic Variants

Gene:KNG1

KNG1

283 papers

RefSeq Summary

This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and as...

Pfam Domains

Cystatinaa 21–116UCSCCystatin domain
Cystatinaa 144–238UCSCCystatin domain
Cystatinaa 266–360UCSCCystatin domain

Gene Aliases

HGNC Name

kininogen 1

HGNC Previous Symbol

BDK

Papers
RefSeq ID
Protein change
DNA change
1–12 of 260 variants
26 papers
NM_001102416.3
p.I581T
c.1742T>C
12 papers
NM_001102416.3
p.M178T
c.533T>C
11 papers
NM_001102416.3
p.I197M
c.591T>G
10 papers
NM_001102416.3
p.M379K
c.1136T>A
8 papers
NM_001102416.3
p.K330E
c.988A>G
6 papers
NM_001102416.3
p.R196*
c.586C>T
4 papers
NM_001102416.3
p.R196Q
c.587G>A
4 papers
NM_001102416.3
p.R389*
c.1165C>T
4 papers
NM_001102416.3
p.T400K
c.1199C>A
4 papers
NM_001102416.3
p.G642A
c.1925G>C
3 papers
NM_001102416.3
p.D430E
c.1290C>A
3 papers
NM_001102416.3
p.D430E
c.1290C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."