Varaico: Literature-Extracted Genetic Variants

Gene:TIMP4
Variant:p.M80fs

TIMP4

36 papers

RefSeq Summary

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

Pfam Domains

TIMPaa 28–207UCSCTissue inhibitor of metalloproteinase

Gene Aliases

HGNC Name

TIMP metallopeptidase inhibitor 4

HGNC Previous Name

tissue inhibitor of metalloproteinase 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003256.4
p.M80fs
c.238_239fs
Surrounding Variants
1 paper
NM_003256.4
p.V87V
c.261C>T
1 paper
NM_003256.4
p.Q111H
c.333G>T
1 paper
NM_003256.4
p.Q111H
c.333G>C
1 paper
NM_003256.4
p.I78_K79insFs
c.234_235insAA
1 paper
NM_003256.4
p.L71_R72insC
c.211_215ins3
1 paper
NM_003256.4
p.E68fs
c.202_203fs
1 paper
NM_003256.4
p.P59L
c.176C>T
1 paper
NM_003256.4
p.A35V
c.104C>T
1 paper
NM_003256.4
p.P24insFs
c.71_72insC
1 paper
NM_003256.4
p.L18delins
c.53delinsGGGGGGT
1 paper
NM_003256.4
p.S10R
c.30C>G
1 paper
NM_003256.4
p.S10R
c.30C>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."