Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.N253del1

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.N253del1
c.757_758delAAC
Surrounding Variants
1 paper
NM_032048.3
p.K263_S264delFs
c.787_791del5
1 paper
NM_032048.3
p.S240C
c.718A>T
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.Q231fs
c.691_692fs
1 paper
NM_032048.3
p.Q231_H232delFs
c.691_695del5
1 paper
NM_032048.3
p.S230C
c.688A>T
1 paper
NM_032048.3
p.S230_Q231del2
c.688_692del6
1 paper
NM_032048.3
p.P226_S230del5
c.676_689del15
2 papers
NM_032048.3
p.R224Q
c.671G>A
1 paper
NM_032048.3
p.R222K
c.665G>A
1 paper
NM_032048.3
p.E282D
c.846G>C
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