Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.P49P

ECM1

188 papers

RefSeq Summary

This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contrib...

Pfam Domains

ECM1aa 41–540UCSCExtracellular matrix protein 1 (ECM1)

Gene Aliases

HGNC Name

extracellular matrix protein 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004425.4
p.P49P
c.147A>T
Surrounding Variants
1 paper
NM_004425.4
p.P49P
c.147A>C
1 paper
NM_004425.4
p.S48P
c.142T>C
1 paper
NM_004425.4
p.L51P
c.152T>C
1 paper
NM_004425.4
p.P47P
c.141C>A
13 papers
NM_004425.4
p.R53*
c.157C>T
11 papers
NM_004425.4
p.A44T
c.130G>A
1 paper
NM_004425.4
p.M57insFs
c.169_170insA
1 paper
NM_004425.4
p.P68A
c.202C>G
1 paper
NM_004425.4
p.Q72*
c.214C>T
11 papers
NM_004425.4
p.Q74E
c.220C>G
3 papers
NM_004425.4
p.Q74*
c.220C>T
3 papers
NM_004425.4
p.V41Splc
c.121+1G>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."