Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN3
Variant:p.P717fs

EMILIN3

58 papers

Pfam Domains

EMIaa 56–126UCSCEMI domain

Gene Aliases

HGNC Name

elastin microfibril interfacer 3

HGNC Previous Symbols

C20orf130; EMILIN5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052846.2
p.P717fs
c.2149_2150fs
Surrounding Variants
1 paper
NM_052846.2
p.P717_R719delFs
c.2149_2156del8
1 paper
NM_052846.2
p.D711V
c.2132A>T
1 paper
NM_052846.2
p.A708T
c.2122G>A
1 paper
NM_052846.2
p.L706L
c.2118G>T
1 paper
NM_052846.2
p.Q753insFs
c.2257dupC
1 paper
NM_052846.2
p.Q753fs
c.2257_2258fs
1 paper
NM_052846.2
p.E758K
c.2272G>A
1 paper
NM_052846.2
p.V651G
c.1952T>G
1 paper
NM_052846.2
p.Q650*
c.1948C>T
1 paper
NM_052846.2
p.E635*
c.1903G>T
1 paper
NM_052846.2
p.R624C
c.1870C>T
1 paper
NM_052846.2
p.T617M
c.1850C>T
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