Varaico: Literature-Extracted Genetic Variants

Gene:TIMP2
Variant:p.S101S

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
12 papers
NM_003255.5
p.S101S
c.303G>A
Surrounding Variants
1 paper
NM_003255.5
p.L102L
c.306G>C
1 paper
NM_003255.5
p.V104I
c.310G>A
1 paper
NM_003255.5
p.S95L
c.284C>T
1 paper
NM_003255.5
p.P93delFs
c.279delG
1 paper
NM_003255.5
p.Y110*
c.330T>G
1 paper
NM_003255.5
p.A113E
c.338C>A
8 papers
NM_003255.5
p.E87E
c.261G>A
1 paper
NM_003255.5
p.K84M
c.251A>T
1 paper
NM_003255.5
p.M78_F79insFs
c.234_235insAA
1 paper
NM_003255.5
p.M78L
c.232A>T
1 paper
NM_003255.5
p.K77_M78Splc
c.232-5T>C
2 papers
NM_003255.5
p.K77_M78Splc
c.231+1287T>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."