Varaico: Literature-Extracted Genetic Variants

Gene:TIMP3
Variant:p.E162*

TIMP3

186 papers

RefSeq Summary

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

Pfam Domains

TIMPaa 22–194UCSCTissue inhibitor of metalloproteinase

Gene Aliases

HGNC Name

TIMP metallopeptidase inhibitor 3

HGNC Previous Symbol

SFD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_000362.5
p.E162*
c.484G>T
Surrounding Variants
8 papers
NM_000362.5
p.E162K
c.484G>A
2 papers
NM_000362.5
p.S159F
c.476C>T
6 papers
NM_000362.5
p.D167N
c.499G>A
1 paper
NM_000362.5
p.D167E
c.501C>A
1 paper
NM_000362.5
p.D167E
c.501C>G
2 papers
NM_000362.5
p.P154S
c.460C>T
6 papers
NM_000362.5
p.S170C
c.509C>G
1 paper
NM_000362.5
p.Y152C
c.455A>G
1 paper
NM_000362.5
p.Y152ins1
c.454_455insGTA
6 papers
NM_000362.5
p.Y151C
c.452A>G
3 papers
NM_000362.5
p.Y174C
c.521A>G
1 paper
NM_000362.5
p.G176C
c.526G>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."