Varaico: Literature-Extracted Genetic Variants

Gene:TIMP3
Variant:p.I205T

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
1 paper
NM_000362.5
p.I205T
c.614T>C
Surrounding Variants
1 paper
NM_000362.5
p.S204R
c.612C>A
1 paper
NM_000362.5
p.S204R
c.612C>G
1 paper
NM_000362.5
p.S204R
c.610A>C
27 papers
NM_000362.5
p.S204C
c.610A>T
1 paper
NM_000362.5
p.N207Y
c.619A>T
1 paper
NM_000362.5
p.P201fs
c.601_602fs
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.W198C
c.594G>C
1 paper
NM_000362.5
p.W198C
c.594G>T
1 paper
NM_000362.5
p.R196Q
c.587G>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."