Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.W193*

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.W193*
c.579G>A
Surrounding Variants
1 paper
NM_004425.4
p.W193*
c.578G>A
2 papers
NM_004425.4
p.P192L
c.575C>T
1 paper
NM_004425.4
p.L195L
c.583C>T
1 paper
NM_004425.4
p.P192A
c.574C>G
1 paper
NM_004425.4
p.P196A
c.586C>G
4 papers
NM_004425.4
p.Q197*
c.589C>T
1 paper
NM_004425.4
p.H187R
c.560A>G
1 paper
NM_004425.4
p.R185C
c.553C>T
3 papers
NM_004425.4
p.Q206*
c.616C>T
9 papers
NM_004425.4
p.C181insFs
c.542_543insAA
1 paper
NM_004425.4
p.C181Fs
c.541_542delinsAGAACCAAATCTGAAFs
1 paper
NM_004425.4
p.C181Fs
c.541_542delinsGGTCTGATTCCGGCTFs
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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."