Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.E178K

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.E178K
c.532G>A
Surrounding Variants
1 paper
NM_032048.3
p.K182E
c.544A>G
1 paper
NM_032048.3
p.W168C
c.504G>C
1 paper
NM_032048.3
p.W168C
c.504G>T
1 paper
NM_032048.3
p.L187P
c.560T>C
1 paper
NM_032048.3
p.R193*
c.577C>T
1 paper
NM_032048.3
p.R193Q
c.578G>A
1 paper
NM_032048.3
p.T197M
c.590C>T
1 paper
NM_032048.3
p.V198A
c.593T>C
1 paper
NM_032048.3
p.F151V
c.451T>G
1 paper
NM_032048.3
p.A206V
c.617C>T
1 paper
NM_032048.3
p.L212F
c.634C>T
1 paper
NM_032048.3
p.K213I
c.638A>T
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