Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.K545E

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.K545E
c.1633A>G
Surrounding Variants
1 paper
NM_032048.3
p.A522T
c.1564G>A
1 paper
NM_032048.3
p.A575T
c.1723G>A
1 paper
NM_032048.3
p.V576A
c.1727T>C
1 paper
NM_032048.3
p.N587K
c.1761C>A
1 paper
NM_032048.3
p.N587K
c.1761C>G
1 paper
NM_032048.3
p.E498Q
c.1492G>C
1 paper
NM_032048.3
p.L486V
c.1456T>G
1 paper
NM_032048.3
p.A478T
c.1432G>A
1 paper
NM_032048.3
p.L475_R476delFs
c.1425_1426delTC
1 paper
NM_032048.3
p.I471V
c.1411A>G
1 paper
NM_032048.3
p.K627delFs
c.1880delA
1 paper
NM_032048.3
p.A464T
c.1390G>A
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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."