Varaico: Literature-Extracted Genetic Variants

Gene:TIMP1
Variant:p.V52I

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
1 paper
NM_003254.3
p.V52I
c.154G>A
Surrounding Variants
1 paper
NM_003254.3
p.V52L
c.154G>C
1 paper
NM_003254.3
p.P50S
c.148C>T
1 paper
NM_003254.3
p.Y58N
c.172T>A
2 papers
NM_003254.3
p.K45E
c.133A>G
3 papers
NM_003254.3
p.R60C
c.178C>T
1 paper
NM_003254.3
p.R43S
c.129G>C
1 paper
NM_003254.3
p.Y61*
c.183T>A
1 paper
NM_003254.3
p.Y61*
c.183T>G
1 paper
NM_003254.3
p.K64N
c.192G>C
1 paper
NM_003254.3
p.M65I
c.195G>A
1 paper
NM_003254.3
p.M65I
c.195G>C
1 paper
NM_003254.3
p.M65I
c.195G>T
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