Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.G24delFs

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.G24delFs
c.72delC
Surrounding Variants
1 paper
NM_004425.4
p.R31S
c.93G>C
1 paper
NM_004425.4
p.R31S
c.93G>T
3 papers
NM_004425.4
p.R31_Q32delins
c.93_94delinsTT
8 papers
NM_004425.4
p.Q32*
c.94C>T
1 paper
NM_004425.4
p.L33L
c.97C>T
1 paper
NM_004425.4
p.Q39L
c.116A>T
3 papers
NM_004425.4
p.V41Splc
c.121+1G>C
11 papers
NM_004425.4
p.A44T
c.130G>A
1 paper
NM_004425.4
p.P47P
c.141C>A
1 paper
NM_004425.4
p.S48P
c.142T>C
1 paper
NM_004425.4
p.P49P
c.147A>C
1 paper
NM_004425.4
p.P49P
c.147A>T
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