Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.Q262delFs

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
9 papers
NM_004425.4
p.Q262delFs
c.785delA
Surrounding Variants
1 paper
NM_004425.4
p.E264K
c.790G>A
7 papers
NM_004425.4
p.C269Y
c.806G>A
1 paper
NM_004425.4
p.E272delFs
c.814_815delGA
1 paper
NM_004425.4
p.E272V
c.815A>T
1 paper
NM_004425.4
p.E272_E273delFs
c.816_817delGG
3 papers
NM_004425.4
p.Q276delFs
c.826delC
1 paper
NM_004425.4
p.P275L
c.824C>T
19 papers
NM_004425.4
p.Q276*
c.826C>T
2 papers
NM_004425.4
p.Q276fs
c.826_827fs
5 papers
NM_004425.4
p.E248*
c.742G>T
2 papers
NM_004425.4
p.C245*
c.735T>A
3 papers
NM_004425.4
p.C245Y
c.734G>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."