Varaico: Literature-Extracted Genetic Variants

Gene:ECM1
Variant:p.C349R

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.C349R
c.1045T>C
Surrounding Variants
1 paper
NM_004425.4
p.Q351*
c.1051C>T
10 papers
NM_004425.4
p.Q346*
c.1036C>T
1 paper
NM_004425.4
p.H355Y
c.1063C>T
2 papers
NM_004425.4
p.Q340fs
c.1018_1019fs
14 papers
NM_004425.4
p.Q340delFs
c.1019delA
18 papers
NM_004425.4
p.W359*
c.1076G>A
16 papers
NM_004425.4
p.W359*
c.1077G>A
1 paper
NM_004425.4
p.K360E
c.1078A>G
1 paper
NM_004425.4
p.A361S
c.1081G>T
1 paper
NM_004425.4
p.A361A
c.1083C>T
4 papers
NM_004425.4
p.A361_W362Splc
c.1083+1G>A
1 paper
NM_004425.4
p.P301L
c.902C>T
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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."