Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.P80fs

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.P80fs
c.238_239fs
Surrounding Variants
1 paper
NM_032048.3
p.Q78_M79ins14
c.232_236ins42
1 paper
NM_032048.3
p.P82S
c.244C>T
2 papers
NM_032048.3
p.P82L
c.245C>T
1 paper
NM_032048.3
p.N77delFs
c.230_231delAC
1 paper
NM_032048.3
p.W76_N77delFs
c.226_230del5
1 paper
NM_032048.3
p.A70V
c.209C>T
1 paper
NM_032048.3
p.E62K
c.184G>A
1 paper
NM_032048.3
p.R39Q
c.116G>A
1 paper
NM_032048.3
p.P34L
c.101C>T
1 paper
NM_032048.3
p.P34_P37del4
c.100_110del12
1 paper
NM_032048.3
p.P32L
c.95C>T
1 paper
NM_032048.3
p.H29P
c.86A>C
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