Varaico: Literature-Extracted Genetic Variants

EMILIN1

108 papers

RefSeq Summary

This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal ...

Pfam Domains

EMIaa 57–126UCSCEMI domain

Collagenaa 812–870UCSCCollagen triple helix repeat (20 copies)

C1qaa 872–1007UCSCC1q domain

Gene Aliases

HGNC Name

elastin microfibril interfacer 1

HGNC Alias Symbols

DKFZp586M121; gp115

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007046.4

p.D115N

c.343G>A

Surrounding Variants

1 paper

NM_007046.4

p.R119G

c.355A>G

1 paper

NM_007046.4

p.R107H

c.320G>A

1 paper

NM_007046.4

p.R105P

c.314G>C

1 paper

NM_007046.4

p.R103H

c.308G>A

1 paper

NM_007046.4

p.A130A

c.390T>C

1 paper

NM_007046.4

p.S132T

c.395G>C

1 paper

NM_007046.4

p.G138E

c.413G>A

1 paper

NM_007046.4

p.P139insFs

c.415_416ins4

1 paper

NM_007046.4

p.P139fs

c.415_416fs

1 paper

NM_007046.4

p.C92_P93Fs

c.275_277delinsTTFs

1 paper

NM_007046.4

p.C92R

c.274T>C

1 paper

NM_007046.4

p.C92fs

c.274_275fs