Varaico: Literature-Extracted Genetic Variants

Gene:MMRN2
Variant:p.L195M

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
Selected Variant
2 papers
NM_024756.3
p.L195M
c.583C>A
Surrounding Variants
1 paper
NM_024756.3
p.Q173L
c.518A>T
1 paper
NM_024756.3
p.E219K
c.655G>A
1 paper
NM_024756.3
p.E226E
c.678G>A
2 papers
NM_024756.3
p.Q271R
c.812A>G
1 paper
NM_024756.3
p.I273F
c.817A>T
1 paper
NM_024756.3
p.I259_I273del0
c.777_818del42
1 paper
NM_024756.3
p.V276I
c.826G>A
1 paper
NM_024756.3
p.A317_H319del0
c.949_957del9
1 paper
NM_024756.3
p.D332N
c.994G>A
1 paper
NM_024756.3
p.R363R
c.1089G>A
1 paper
NM_024756.3
p.E418K
c.1252G>A
2 papers
NM_024756.3
p.D424N
c.1270G>A
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