Varaico: Literature-Extracted Genetic Variants

Gene:MMRN2
Variant:p.D769E

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
1 paper
NM_024756.3
p.D769E
c.2307C>A
Surrounding Variants
1 paper
NM_024756.3
p.D769E
c.2307C>G
1 paper
NM_024756.3
p.R749L
c.2246G>T
1 paper
NM_024756.3
p.S743R
c.2229C>G
1 paper
NM_024756.3
p.S743R
c.2229C>A
1 paper
NM_024756.3
p.S743R
c.2227A>C
2 papers
NM_024756.3
p.H731D
c.2191C>G
3 papers
NM_024756.3
p.A724ins2
c.2171_2172ins6
1 paper
NM_024756.3
p.A817T
c.2449G>A
1 paper
NM_024756.3
p.A717A
c.2151C>T
1 paper
NM_024756.3
p.G685V
c.2054G>T
1 paper
NM_024756.3
p.T663M
c.1988C>T
1 paper
NM_024756.3
p.T626M
c.1877C>T
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