Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN3
Variant:p.K56Splc

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.K56Splc
c.167+4A>G
Surrounding Variants
3 papers
NM_052846.2
p.H55P
c.164A>C
1 paper
NM_052846.2
p.R84W
c.250C>T
1 paper
NM_052846.2
p.R99H
c.296G>A
1 paper
NM_052846.2
p.V113L
c.337G>C
1 paper
NM_052846.2
p.R119C
c.355C>T
1 paper
NM_052846.2
p.L183fs
c.547_548fs
1 paper
NM_052846.2
p.R182delFs
c.546delC
1 paper
NM_052846.2
p.R185C
c.553C>T
1 paper
NM_052846.2
p.R185H
c.554G>A
1 paper
NM_052846.2
p.T214I
c.641C>T
1 paper
NM_052846.2
p.P230A
c.688C>G
1 paper
NM_052846.2
p.P236P
c.708A>T
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