Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN3
Variant:p.L613S

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
4 papers
NM_052846.2
p.L613S
c.1838T>C
Surrounding Variants
1 paper
NM_052846.2
p.A611G
c.1832C>G
1 paper
NM_052846.2
p.T617M
c.1850C>T
1 paper
NM_052846.2
p.R624C
c.1870C>T
1 paper
NM_052846.2
p.S597*
c.1790C>A
1 paper
NM_052846.2
p.E635*
c.1903G>T
1 paper
NM_052846.2
p.S579L
c.1736C>T
1 paper
NM_052846.2
p.Q650*
c.1948C>T
1 paper
NM_052846.2
p.V651G
c.1952T>G
1 paper
NM_052846.2
p.N562S
c.1685A>G
1 paper
NM_052846.2
p.S544R
c.1632C>G
1 paper
NM_052846.2
p.S544R
c.1632C>A
1 paper
NM_052846.2
p.S544R
c.1630A>C
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