Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN3
Variant:p.G460delFs

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.G460delFs
c.1380delC
Surrounding Variants
2 papers
NM_052846.2
p.W461G
c.1381T>G
1 paper
NM_052846.2
p.M458fs
c.1372_1373fs
1 paper
NM_052846.2
p.M458R
c.1373T>G
1 paper
NM_052846.2
p.L456W
c.1367T>G
2 papers
NM_052846.2
p.R473C
c.1417C>T
1 paper
NM_052846.2
p.V474M
c.1420G>A
1 paper
NM_052846.2
p.E478K
c.1432G>A
1 paper
NM_052846.2
p.R480G
c.1438C>G
1 paper
NM_052846.2
p.R480H
c.1439G>A
1 paper
NM_052846.2
p.P495L
c.1484C>T
1 paper
NM_052846.2
p.R500W
c.1498C>T
1 paper
NM_052846.2
p.D418N
c.1252G>A
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