Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.C396R

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.C396R
c.1186T>C
Surrounding Variants
1 paper
NM_032048.3
p.Y358C
c.1073A>G
1 paper
NM_032048.3
p.P442L
c.1325C>T
1 paper
NM_032048.3
p.V444L
c.1330G>C
1 paper
NM_032048.3
p.F446_D447insTA
c.1336_1340ins6
1 paper
NM_032048.3
p.N451N
c.1353T>C
1 paper
NM_032048.3
p.A455P
c.1363G>C
1 paper
NM_032048.3
p.E461K
c.1381G>A
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
1 paper
NM_032048.3
p.A464T
c.1390G>A
2 papers
NM_032048.3
p.A324D
c.971C>A
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