Varaico: Literature-Extracted Genetic Variants

Gene:TIMP3

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
1–12 of 96 variants
27 papers
NM_000362.5
p.S204C
c.610A>T
20 papers
NM_000362.5
p.S179C
c.536C>G
18 papers
NM_000362.5
p.Y191C
c.572A>G
17 papers
NM_000362.5
p.S38C
c.113C>G
8 papers
NM_000362.5
p.E162K
c.484G>A
7 papers
NM_000362.5
p.G190C
c.568G>T
6 papers
NM_000362.5
p.S87S
c.261C>T
6 papers
NM_000362.5
p.Y151C
c.452A>G
6 papers
NM_000362.5
p.D167N
c.499G>A
6 papers
NM_000362.5
p.S170C
c.509C>G
6 papers
NM_000362.5
p.H181R
c.542A>G
6 papers
NM_000362.5
p.G189C
c.565G>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."