Varaico: Literature-Extracted Genetic Variants

Gene:ECM1

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
1–12 of 167 variants
22 papers
NM_004425.4
p.P169delFs
c.507delT
19 papers
NM_004425.4
p.Q276*
c.826C>T
18 papers
NM_004425.4
p.T130M
c.389C>T
18 papers
NM_004425.4
p.W359*
c.1076G>A
16 papers
NM_004425.4
p.W359*
c.1077G>A
14 papers
NM_004425.4
p.R243*
c.727C>T
14 papers
NM_004425.4
p.Q340delFs
c.1019delA
13 papers
NM_004425.4
p.R53*
c.157C>T
13 papers
NM_004425.4
p.C220G
c.658T>G
11 papers
NM_004425.4
p.A44T
c.130G>A
11 papers
NM_004425.4
p.Q74E
c.220C>G
11 papers
NM_004425.4
p.D290N
c.868G>A
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."