Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.R171fs

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
3 papers
NM_004425.4
p.R171fs
c.511_512fs
Surrounding Variants
22 papers
NM_004425.4
p.P169delFs
c.507delT
3 papers
NM_004425.4
p.P169T
c.505C>A
3 papers
NM_004425.4
p.P169_G170ins0
c.506_508dupCTG
1 paper
NM_004425.4
p.P169_G170insA
c.505_509ins3
1 paper
NM_004425.4
p.P169A
c.505C>G
6 papers
NM_004425.4
p.F167L
c.501C>A
6 papers
NM_004425.4
p.F167L
c.501C>G
10 papers
NM_004425.4
p.F167_P168insFs
c.501_502insC
9 papers
NM_004425.4
p.F167I
c.499T>A
6 papers
NM_004425.4
p.F167L
c.499T>C
1 paper
NM_004425.4
p.N176H
c.526A>C
1 paper
NM_004425.4
p.C181Fs
c.541_542delinsAGAACCAAATCTGAAFs
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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."