Varaico: Literature-Extracted Genetic Variants

Gene:TIMP3
Variant:p.E88fs

TIMP3

186 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 22–194UCSCTissue inhibitor of metalloproteinase

Gene Aliases

HGNC Name

TIMP metallopeptidase inhibitor 3

HGNC Previous Symbol

SFD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000362.5
p.E88fs
c.262_263fs
Surrounding Variants
1 paper
NM_000362.5
p.E88K
c.262G>A
1 paper
NM_000362.5
p.E88fs
c.262_263fs
6 papers
NM_000362.5
p.S87S
c.261C>T
1 paper
NM_000362.5
p.S87fs
c.259_260fs
3 papers
NM_000362.5
p.S87delFs
c.260delC
5 papers
NM_000362.5
p.H83H
c.249T>C
1 paper
NM_000362.5
p.H83Y
c.247C>T
1 paper
NM_000362.5
p.Y81N
c.241T>A
1 paper
NM_000362.5
p.H78_V79insFs
c.234_235insAA
1 paper
NM_000362.5
p.P77P
c.231C>T
1 paper
NM_000362.5
p.N98K
c.294C>A
1 paper
NM_000362.5
p.N98K
c.294C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."