Varaico: Literature-Extracted Genetic Variants

Gene:TIMP2
Variant:p.M1K

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.M1K
c.2T>A
Surrounding Variants
3 papers
NM_003255.5
p.M1R
c.2T>G
1 paper
NM_003255.5
p.M1I
c.3G>A
1 paper
NM_003255.5
p.G2G
c.6C>T
1 paper
NM_003255.5
p.L10P
c.29T>C
1 paper
NM_003255.5
p.A11P
c.31G>C
1 paper
NM_003255.5
p.L12I
c.34C>A
1 paper
NM_003255.5
p.G13D
c.38G>A
1 paper
NM_003255.5
p.L14P
c.41T>C
1 paper
NM_003255.5
p.L20M
c.58C>A
1 paper
NM_003255.5
p.D25A
c.74A>C
1 paper
NM_003255.5
p.A26S
c.76G>T
1 paper
NM_003255.5
p.S28R
c.82A>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."