Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.S80_Q81delFs

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.S80_Q81delFs
c.240_241delTC
Surrounding Variants
8 papers
NM_004425.4
p.Q81delFs
c.243delG
1 paper
NM_004425.4
p.T84P
c.250A>C
4 papers
NM_004425.4
p.Q95*
c.283C>T
1 paper
NM_004425.4
p.Q95H
c.285A>C
2 papers
NM_004425.4
p.Q95H
c.285A>T
1 paper
NM_004425.4
p.L96P
c.287T>C
1 paper
NM_004425.4
p.L106_L113delFs
c.317_339del23
11 papers
NM_004425.4
p.Q74E
c.220C>G
3 papers
NM_004425.4
p.Q74*
c.220C>T
1 paper
NM_004425.4
p.L106fs
c.316_317fs
1 paper
NM_004425.4
p.Q72*
c.214C>T
1 paper
NM_004425.4
p.P68A
c.202C>G
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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."