Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.K263_S264delFs

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.K263_S264delFs
c.787_791del5
Surrounding Variants
1 paper
NM_032048.3
p.N253del1
c.757_758delAAC
1 paper
NM_032048.3
p.E282D
c.846G>C
1 paper
NM_032048.3
p.E282D
c.846G>T
1 paper
NM_032048.3
p.S240C
c.718A>T
1 paper
NM_032048.3
p.G285R
c.853G>A
1 paper
NM_032048.3
p.G285R
c.853G>C
1 paper
NM_032048.3
p.P235T
c.703C>A
1 paper
NM_032048.3
p.P235delFs
c.703_704delCC
1 paper
NM_032048.3
p.Y290H
c.868T>C
1 paper
NM_032048.3
p.E291K
c.871G>A
1 paper
NM_032048.3
p.Q231fs
c.691_692fs
1 paper
NM_032048.3
p.Q231_H232delFs
c.691_695del5
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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."