Varaico: Literature-Extracted Genetic Variants

Gene:TIMP2

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
1–12 of 59 variants
12 papers
NM_003255.5
p.S101S
c.303G>A
8 papers
NM_003255.5
p.E87E
c.261G>A
8 papers
NM_003255.5
p.Q140E
c.418C>G
3 papers
NM_003255.5
p.M1R
c.2T>G
3 papers
NM_003255.5
p.I61V
c.181A>G
2 papers
NM_003255.5
p.N59N
c.177C>T
2 papers
NM_003255.5
p.D60D
c.180C>T
2 papers
NM_003255.5
p.K77_M78Splc
c.231+23C>T
2 papers
NM_003255.5
p.K77_M78Splc
c.231+1287T>C
2 papers
NM_003255.5
p.E218D
c.654G>T
2 papers
NM_003255.5
p.E218E
c.654G>A
1 paper
NM_003255.5
p.M1K
c.2T>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."