Varaico: Literature-Extracted Genetic Variants

Gene:TIMP2
Variant:p.Q140E

TIMP2

129 papers

RefSeq Summary

This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the ex...

Pfam Domains

TIMPaa 25–203UCSCTissue inhibitor of metalloproteinase

Gene Aliases

HGNC Name

TIMP metallopeptidase inhibitor 2

HGNC Alias Symbol

CSC-21K

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_003255.5
p.Q140E
c.418C>G
Surrounding Variants
1 paper
NM_003255.5
p.T135T
c.405C>T
1 paper
NM_003255.5
p.T135T
c.405C>G
1 paper
NM_003255.5
p.C127*
c.381T>A
1 paper
NM_003255.5
p.E153V
c.458A>T
1 paper
NM_003255.5
p.I124I
c.372C>T
1 paper
NM_003255.5
p.H123H
c.369C>T
1 paper
NM_003255.5
p.H123R
c.368A>G
1 paper
NM_003255.5
p.P160L
c.479C>T
1 paper
NM_003255.5
p.I166M
c.498C>G
1 paper
NM_003255.5
p.P169L
c.506C>T
1 paper
NM_003255.5
p.D176E
c.528C>A
1 paper
NM_003255.5
p.G185R
c.553G>C
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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."