Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.C181insFs

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
9 papers
NM_004425.4
p.C181insFs
c.542_543insAA
Surrounding Variants
1 paper
NM_004425.4
p.C181Fs
c.541_542delinsAGAACCAAATCTGAAFs
1 paper
NM_004425.4
p.C181Fs
c.541_542delinsGGTCTGATTCCGGCTFs
1 paper
NM_004425.4
p.R185C
c.553C>T
1 paper
NM_004425.4
p.N176H
c.526A>C
1 paper
NM_004425.4
p.H187R
c.560A>G
3 papers
NM_004425.4
p.R171fs
c.511_512fs
1 paper
NM_004425.4
p.P192A
c.574C>G
2 papers
NM_004425.4
p.P192L
c.575C>T
22 papers
NM_004425.4
p.P169delFs
c.507delT
1 paper
NM_004425.4
p.W193*
c.578G>A
3 papers
NM_004425.4
p.P169T
c.505C>A
3 papers
NM_004425.4
p.P169_G170ins0
c.506_508dupCTG
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."