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.G308A

c.923G>C

Surrounding Variants

1 paper

NM_007046.4

p.G308W

c.922G>T

1 paper

NM_007046.4

p.A307V

c.920C>T

1 paper

NM_007046.4

p.Q315Q

c.945G>A

1 paper

NM_007046.4

p.S301T

c.901T>A

1 paper

NM_007046.4

p.Q316Q

c.948G>A

1 paper

NM_007046.4

p.R297Q

c.890G>A

1 paper

NM_007046.4

p.E327V

c.980A>T

1 paper

NM_007046.4

p.P277insFs

c.831dupA

1 paper

NM_007046.4

p.R347G

c.1039C>G

1 paper

NM_007046.4

p.P350S

c.1048C>T

1 paper

NM_007046.4

p.E257K

c.769G>A

1 paper

NM_007046.4

p.R360Q

c.1079G>A