Varaico: Literature-Extracted Genetic Variants

Gene:MMRN2
Variant:p.A908ins0

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.A908ins0
c.2722_2724dupGCA
Surrounding Variants
4 papers
NM_024756.3
p.V910L
c.2728G>C
1 paper
NM_024756.3
p.G942R
c.2824G>C
1 paper
NM_024756.3
p.G942R
c.2824G>A
1 paper
NM_024756.3
p.A817T
c.2449G>A
1 paper
NM_024756.3
p.D769E
c.2307C>G
1 paper
NM_024756.3
p.D769E
c.2307C>A
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
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."