Varaico: Literature-Extracted Genetic Variants

Gene:KLK14

KLK14

20 papers

RefSeq Summary

This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of th...

Pfam Domains

Trypsinaa 25–244UCSCTrypsin

Gene Aliases

HGNC Name

kallikrein related peptidase 14

HGNC Alias Symbol

KLK-L6

Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
2 papers
NM_001369775.2
p.I26T
c.77T>C
2 papers
NM_001369775.2
p.R122W
c.364C>T
2 papers
NM_001369775.2
p.I155N
c.464T>A
2 papers
NM_001369775.2
p.D203G
c.608A>G
1 paper
NM_001369775.2
p.M1R
c.2T>G
1 paper
NM_001369775.2
p.M1K
c.2T>A
1 paper
NM_001369775.2
p.H29Y
c.85C>T
1 paper
NM_001369775.2
p.I63delFs
c.189delG
1 paper
NM_001369775.2
p.H80insFs
c.238_239insG
1 paper
NM_001369775.2
p.Q90insFs
c.268_269insT
1 paper
NM_001369775.2
p.R93C
c.277C>T
1 paper
NM_001369775.2
p.E131insFs
c.391_392ins4
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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."