Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.G840V

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.G840V
c.2519G>T
Surrounding Variants
1 paper
NM_032048.3
p.P830L
c.2489C>T
1 paper
NM_032048.3
p.P853S
c.2557C>T
1 paper
NM_032048.3
p.A855T
c.2563G>A
1 paper
NM_032048.3
p.V825I
c.2473G>A
1 paper
NM_032048.3
p.K787_P791del0
c.2360_2371del12
1 paper
NM_032048.3
p.P898S
c.2692C>T
1 paper
NM_032048.3
p.V923I
c.2767G>A
1 paper
NM_032048.3
p.L953Q
c.2858T>A
1 paper
NM_032048.3
p.T955T
c.2865G>A
1 paper
NM_032048.3
p.T959T
c.2877C>A
1 paper
NM_032048.3
p.E961K
c.2881G>A
2 papers
NM_032048.3
p.A978S
c.2932G>T
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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."