Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.E272delFs

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.E272delFs
c.814_815delGA
Surrounding Variants
1 paper
NM_004425.4
p.E272V
c.815A>T
1 paper
NM_004425.4
p.E272_E273delFs
c.816_817delGG
7 papers
NM_004425.4
p.C269Y
c.806G>A
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
1 paper
NM_004425.4
p.E264K
c.790G>A
1 paper
NM_004425.4
p.L281F
c.841C>T
9 papers
NM_004425.4
p.Q262delFs
c.785delA
1 paper
NM_004425.4
p.R282Q
c.845G>A
11 papers
NM_004425.4
p.D290N
c.868G>A
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