Varaico: Literature-Extracted Genetic Variants

Gene:TIMP2
Variant:p.S28R

TIMP2

129 papers

RefSeq Summary

This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the ex...

Pfam Domains

TIMPaa 25–203UCSCTissue inhibitor of metalloproteinase

Gene Aliases

HGNC Name

TIMP metallopeptidase inhibitor 2

HGNC Alias Symbol

CSC-21K

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003255.5
p.S28R
c.82A>C
Surrounding Variants
1 paper
NM_003255.5
p.S28R
c.84C>G
1 paper
NM_003255.5
p.S28R
c.84C>A
1 paper
NM_003255.5
p.A26S
c.76G>T
1 paper
NM_003255.5
p.D25A
c.74A>C
1 paper
NM_003255.5
p.V32A
c.95T>C
1 paper
NM_003255.5
p.L20M
c.58C>A
1 paper
NM_003255.5
p.F38L
c.114T>G
1 paper
NM_003255.5
p.C39F
c.116G>T
1 paper
NM_003255.5
p.L14P
c.41T>C
1 paper
NM_003255.5
p.D42N
c.124G>A
1 paper
NM_003255.5
p.G13D
c.38G>A
1 paper
NM_003255.5
p.L12I
c.34C>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."