Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.Y358C

EMILIN2

59 papers

Pfam Domains

EMIaa 45–115UCSCEMI domain
C1qaa 907–1046UCSCC1q domain

Gene Aliases

HGNC Name

elastin microfibril interfacer 2

HGNC Alias Symbols

FLJ33200; FOAP-10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032048.3
p.Y358C
c.1073A>G
Surrounding Variants
1 paper
NM_032048.3
p.M330L
c.988A>C
1 paper
NM_032048.3
p.M330L
c.988A>T
1 paper
NM_032048.3
p.L329_M330delFs
c.987_988delCA
2 papers
NM_032048.3
p.A324D
c.971C>A
1 paper
NM_032048.3
p.A324T
c.970G>A
1 paper
NM_032048.3
p.C396R
c.1186T>C
1 paper
NM_032048.3
p.E312K
c.934G>A
1 paper
NM_032048.3
p.G303S
c.907G>A
1 paper
NM_032048.3
p.E299K
c.895G>A
1 paper
NM_032048.3
p.L294L
c.882C>G
1 paper
NM_032048.3
p.E291K
c.871G>A
1 paper
NM_032048.3
p.Y290H
c.868T>C
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