Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN2
Variant:p.V126fs

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.V126fs
c.376_377fs
Surrounding Variants
2 papers
NM_032048.3
p.T132M
c.395C>T
1 paper
NM_032048.3
p.C118S
c.353G>C
1 paper
NM_032048.3
p.C118S
c.352T>A
1 paper
NM_032048.3
p.R137Q
c.410G>A
1 paper
NM_032048.3
p.G112fs
c.334_335fs
1 paper
NM_032048.3
p.V102_C110del9
c.304_329del27
1 paper
NM_032048.3
p.Y99_K100ins6
c.295_299ins18
1 paper
NM_032048.3
p.F151V
c.451T>G
1 paper
NM_032048.3
p.W168C
c.504G>C
1 paper
NM_032048.3
p.W168C
c.504G>T
1 paper
NM_032048.3
p.E178K
c.532G>A
1 paper
NM_032048.3
p.K182E
c.544A>G
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