Varaico: Literature-Extracted Genetic Variants

Gene:MMRN2
Variant:p.C494S

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.C494S
c.1480T>A
Surrounding Variants
1 paper
NM_024756.3
p.C494S
c.1481G>C
1 paper
NM_024756.3
p.C494Y
c.1481G>A
1 paper
NM_024756.3
p.E459del1
c.1375_1376delCTC
1 paper
NM_024756.3
p.Q534K
c.1600C>A
1 paper
NM_024756.3
p.E452del1
c.1354_1356delCTC
1 paper
NM_024756.3
p.G554S
c.1660G>A
1 paper
NM_024756.3
p.R558Q
c.1673G>A
2 papers
NM_024756.3
p.D424N
c.1270G>A
1 paper
NM_024756.3
p.E418K
c.1252G>A
1 paper
NM_024756.3
p.E574K
c.1720G>A
1 paper
NM_024756.3
p.A577fs
c.1729_1730fs
1 paper
NM_024756.3
p.A577_L578delFs
c.1731_1732delGC
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