Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.R705fs

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.R705fs
c.2113_2114fs
Surrounding Variants
1 paper
NM_032048.3
p.G704insFs
c.2111dupG
1 paper
NM_032048.3
p.E703_G704del2
c.2107_2111del6
1 paper
NM_032048.3
p.D717N
c.2149G>A
1 paper
NM_032048.3
p.C688_Q693del6
c.2062_2078del18
1 paper
NM_032048.3
p.Q724H
c.2172G>C
1 paper
NM_032048.3
p.Q724H
c.2172G>T
1 paper
NM_032048.3
p.R676_E690del15
c.2026_2069del45
1 paper
NM_032048.3
p.S735R
c.2203A>C
1 paper
NM_032048.3
p.S735R
c.2205C>A
1 paper
NM_032048.3
p.S735R
c.2205C>G
1 paper
NM_032048.3
p.K759N
c.2277G>C
1 paper
NM_032048.3
p.K759N
c.2277G>T
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