Varaico: Literature-Extracted Genetic Variants

Gene:TIMP1
Variant:p.L117F

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
1 paper
NM_003254.3
p.L117F
c.351G>C
Surrounding Variants
1 paper
NM_003254.3
p.L117F
c.351G>T
33 papers
NM_003254.3
p.F124F
c.372T>C
1 paper
NM_003254.3
p.R136H
c.407G>A
1 paper
NM_003254.3
p.R137W
c.409C>T
3 papers
NM_003254.3
p.V145A
c.434T>C
2 papers
NM_003254.3
p.G110Splc
c.328+16C>T
1 paper
NM_003254.3
p.A109A
c.327T>C
1 paper
NM_003254.3
p.A109T
c.325G>A
1 paper
NM_003254.3
p.E105A
c.314A>C
1 paper
NM_003254.3
p.R102H
c.305G>A
7 papers
NM_003254.3
p.P87P
c.261C>T
1 paper
NM_003254.3
p.D80N
c.238G>A
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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."