Varaico: Literature-Extracted Genetic Variants

Gene:TIMP2
Variant:p.D176E

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
1 paper
NM_003255.5
p.D176E
c.528C>A
Surrounding Variants
1 paper
NM_003255.5
p.P169L
c.506C>T
1 paper
NM_003255.5
p.G185R
c.553G>C
1 paper
NM_003255.5
p.G185R
c.553G>A
1 paper
NM_003255.5
p.I166M
c.498C>G
1 paper
NM_003255.5
p.P160L
c.479C>T
1 paper
NM_003255.5
p.P209A
c.625C>G
1 paper
NM_003255.5
p.I217L
c.649A>C
1 paper
NM_003255.5
p.I217I
c.651C>T
2 papers
NM_003255.5
p.E218D
c.654G>T
2 papers
NM_003255.5
p.E218E
c.654G>A
1 paper
NM_003255.5
p.E153V
c.458A>T
8 papers
NM_003255.5
p.Q140E
c.418C>G
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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."