Varaico: Literature-Extracted Genetic Variants

Gene:TIMP3
Variant:p.S193C

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.S193C
c.577A>T
Surrounding Variants
18 papers
NM_000362.5
p.Y191C
c.572A>G
6 papers
NM_000362.5
p.Y195C
c.584A>G
1 paper
NM_000362.5
p.G190S
c.568G>A
7 papers
NM_000362.5
p.G190C
c.568G>T
1 paper
NM_000362.5
p.R196Q
c.587G>A
6 papers
NM_000362.5
p.G189C
c.565G>T
1 paper
NM_000362.5
p.W198C
c.594G>C
1 paper
NM_000362.5
p.W198C
c.594G>T
1 paper
NM_000362.5
p.A199P
c.595G>C
1 paper
NM_000362.5
p.A199fs
c.595_596fs
1 paper
NM_000362.5
p.P201delFs
c.602delC
1 paper
NM_000362.5
p.I185M
c.555C>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."