Varaico: Literature-Extracted Genetic Variants

Gene:TIMP2
Variant:p.N59N

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
2 papers
NM_003255.5
p.N59N
c.177C>T
Surrounding Variants
2 papers
NM_003255.5
p.D60D
c.180C>T
3 papers
NM_003255.5
p.I61V
c.181A>G
1 paper
NM_003255.5
p.D56H
c.166G>C
1 paper
NM_003255.5
p.V55V
c.165G>T
1 paper
NM_003255.5
p.E52K
c.154G>A
1 paper
NM_003255.5
p.K48R
c.143A>G
2 papers
NM_003255.5
p.K77_M78Splc
c.231+23C>T
2 papers
NM_003255.5
p.K77_M78Splc
c.231+1287T>C
1 paper
NM_003255.5
p.K77_M78Splc
c.232-5T>C
1 paper
NM_003255.5
p.M78L
c.232A>T
1 paper
NM_003255.5
p.M78_F79insFs
c.234_235insAA
1 paper
NM_003255.5
p.K84M
c.251A>T
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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."