Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.C220G

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
13 papers
NM_004425.4
p.C220G
c.658T>G
Surrounding Variants
1 paper
NM_004425.4
p.R219G
c.655C>G
1 paper
NM_004425.4
p.H222Y
c.664C>T
1 paper
NM_004425.4
p.N228S
c.683A>G
3 papers
NM_004425.4
p.L210P
c.629T>C
3 papers
NM_004425.4
p.L230_E231delFs
c.690_691delAG
2 papers
NM_004425.4
p.E231fs
c.691_692fs
1 paper
NM_004425.4
p.E231G
c.692A>G
3 papers
NM_004425.4
p.Q206*
c.616C>T
4 papers
NM_004425.4
p.Q197*
c.589C>T
1 paper
NM_004425.4
p.P196A
c.586C>G
1 paper
NM_004425.4
p.L195L
c.583C>T
1 paper
NM_004425.4
p.W193*
c.579G>A
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