Varaico: Literature-Extracted Genetic Variants

Gene:TIMP3
Variant:p.S38C

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
17 papers
NM_000362.5
p.S38C
c.113C>G
Surrounding Variants
1 paper
NM_000362.5
p.D39V
c.116A>T
2 papers
NM_000362.5
p.C36S
c.107G>C
2 papers
NM_000362.5
p.C36S
c.106T>A
1 paper
NM_000362.5
p.V41M
c.121G>A
3 papers
NM_000362.5
p.C24R
c.70T>C
1 paper
NM_000362.5
p.C24G
c.70T>G
1 paper
NM_000362.5
p.W19R
c.55T>C
2 papers
NM_000362.5
p.G12D
c.35G>A
1 paper
NM_000362.5
p.G12V
c.35G>T
1 paper
NM_000362.5
p.G12R
c.34G>C
3 papers
NM_000362.5
p.L10H
c.29T>A
1 paper
NM_000362.5
p.L10P
c.29T>C
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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."