Varaico: Literature-Extracted Genetic Variants

Gene:MMRN2

MMRN2

57 papers

RefSeq Summary

This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with...

Pfam Domains

EMIaa 55–127UCSCEMI domain
C1qaa 827–946UCSCC1q domain

Gene Aliases

HGNC Name

multimerin 2

HGNC Alias Symbols

EndoGlyx-1; FLJ13465

Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
6 papers
NM_024756.3
p.G49S
c.145G>A
4 papers
NM_024756.3
p.V910L
c.2728G>C
3 papers
NM_024756.3
p.A724ins2
c.2171_2172ins6
2 papers
NM_024756.3
p.L195M
c.583C>A
2 papers
NM_024756.3
p.Q271R
c.812A>G
2 papers
NM_024756.3
p.D424N
c.1270G>A
2 papers
NM_024756.3
p.H731D
c.2191C>G
1 paper
NM_024756.3
p.I2fs
c.4_5fs
1 paper
NM_024756.3
p.A70P
c.208G>C
1 paper
NM_024756.3
p.V106_Y107del1
c.317_319delACA
1 paper
NM_024756.3
p.V113M
c.337G>A
1 paper
NM_024756.3
p.G145A
c.434G>C
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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."