Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.R10del1

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.R10del1
c.28_29delCGC
Surrounding Variants
1 paper
NM_032048.3
p.W8L
c.23G>T
1 paper
NM_032048.3
p.R10R
c.30C>T
1 paper
NM_032048.3
p.P12_W13delFs
c.34_37del4
1 paper
NM_032048.3
p.Q3L
c.8A>T
1 paper
NM_032048.3
p.G24C
c.70G>T
1 paper
NM_032048.3
p.G26_L27insFs
c.78_79ins14
1 paper
NM_032048.3
p.H29P
c.86A>C
1 paper
NM_032048.3
p.P32L
c.95C>T
1 paper
NM_032048.3
p.P34_P37del4
c.100_110del12
1 paper
NM_032048.3
p.P34L
c.101C>T
1 paper
NM_032048.3
p.R39Q
c.116G>A
1 paper
NM_032048.3
p.E62K
c.184G>A
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