Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2

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
1–12 of 127 variants
2 papers
NM_032048.3
p.P82L
c.245C>T
2 papers
NM_032048.3
p.T132M
c.395C>T
2 papers
NM_032048.3
p.R224Q
c.671G>A
2 papers
NM_032048.3
p.A324D
c.971C>A
2 papers
NM_032048.3
p.A978S
c.2932G>T
1 paper
NM_032048.3
p.Q3L
c.8A>T
1 paper
NM_032048.3
p.W8L
c.23G>T
1 paper
NM_032048.3
p.R10del1
c.28_29delCGC
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.G24C
c.70G>T
1 paper
NM_032048.3
p.G26_L27insFs
c.78_79ins14
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."