Varaico: Literature-Extracted Genetic Variants

Gene:TIMP1
Variant:p.M1K

TIMP1

180 papers

RefSeq Summary

This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the...

Pfam Domains

TIMPaa 22–199UCSCTissue inhibitor of metalloproteinase

Gene Aliases

HGNC Name

TIMP metallopeptidase inhibitor 1

HGNC Previous Symbol

CLGI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003254.3
p.M1K
c.2T>A
Surrounding Variants
3 papers
NM_003254.3
p.M1R
c.2T>G
1 paper
NM_003254.3
p.M1I
c.3G>A
1 paper
NM_003254.3
p.A2A
c.6C>T
1 paper
NM_003254.3
p.P6S
c.16C>T
4 papers
NM_003254.3
p.L7L
c.19C>T
1 paper
NM_003254.3
p.S21R
c.61A>C
1 paper
NM_003254.3
p.S21R
c.63C>A
1 paper
NM_003254.3
p.S21R
c.63C>G
1 paper
NM_003254.3
p.P31T
c.91C>A
1 paper
NM_003254.3
p.S38S
c.114C>T
1 paper
NM_003254.3
p.V41I
c.121G>A
1 paper
NM_003254.3
p.R43S
c.129G>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."