Varaico: Literature-Extracted Genetic Variants

Gene:TIMP1
Variant:p.I158I

TIMP1

180 papers

RefSeq Summary

This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the...

Pfam Domains

TIMPaa 22–199UCSCTissue inhibitor of metalloproteinase

Gene Aliases

HGNC Name

TIMP metallopeptidase inhibitor 1

HGNC Previous Symbol

CLGI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003254.3
p.I158I
c.474C>T
Surrounding Variants
1 paper
NM_003254.3
p.I158V
c.472A>G
1 paper
NM_003254.3
p.T166insFs
c.497_498insA
3 papers
NM_003254.3
p.T171M
c.512C>T
1 paper
NM_003254.3
p.T171T
c.513G>A
1 paper
NM_003254.3
p.D172A
c.515A>C
3 papers
NM_003254.3
p.S178F
c.533C>T
1 paper
NM_003254.3
p.R192Q
c.575G>A
2 papers
NM_003254.3
p.T198P
c.592A>C
1 paper
NM_003254.3
p.W199R
c.595T>A
1 paper
NM_003254.3
p.W199R
c.595T>C
1 paper
NM_003254.3
p.W199*
c.597G>A
1 paper
NM_003254.3
p.S204C
c.611C>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."