Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.W237R

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.W237R
c.709T>A
Surrounding Variants
1 paper
NM_004425.4
p.W237R
c.709T>C
3 papers
NM_004425.4
p.V236_W237Splc
c.709-2A>G
1 paper
NM_004425.4
p.S242S
c.726C>T
1 paper
NM_004425.4
p.R243R
c.727C>A
14 papers
NM_004425.4
p.R243*
c.727C>T
6 papers
NM_004425.4
p.C245_E246delFs
c.735_736delTG
1 paper
NM_004425.4
p.C245fs
c.733_734fs
3 papers
NM_004425.4
p.C245Y
c.734G>A
2 papers
NM_004425.4
p.C245*
c.735T>A
5 papers
NM_004425.4
p.E248*
c.742G>T
9 papers
NM_004425.4
p.Q262delFs
c.785delA
1 paper
NM_004425.4
p.E264K
c.790G>A
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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."