Varaico: Literature-Extracted Genetic Variants

Gene:TIMP1

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
1–12 of 53 variants
33 papers
NM_003254.3
p.F124F
c.372T>C
7 papers
NM_003254.3
p.P87P
c.261C>T
4 papers
NM_003254.3
p.L7L
c.19C>T
3 papers
NM_003254.3
p.M1R
c.2T>G
3 papers
NM_003254.3
p.R60C
c.178C>T
3 papers
NM_003254.3
p.V145A
c.434T>C
3 papers
NM_003254.3
p.I158I
c.474C>T
3 papers
NM_003254.3
p.T171M
c.512C>T
3 papers
NM_003254.3
p.S178F
c.533C>T
2 papers
NM_003254.3
p.M1K
c.2T>A
2 papers
NM_003254.3
p.K45E
c.133A>G
2 papers
NM_003254.3
p.G110Splc
c.328+16C>T
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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."