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.A554S

c.1660G>T

Surrounding Variants

1 paper

NM_007046.4

p.R559W

c.1675C>T

2 papers

NM_007046.4

p.Q536*

c.1606C>T

1 paper

NM_007046.4

p.D579V

c.1736A>T

1 paper

NM_007046.4

p.A524V

c.1571C>T

1 paper

NM_007046.4

p.G587*

c.1759G>T

1 paper

NM_007046.4

p.T520T

c.1560G>A

1 paper

NM_007046.4

p.T520M

c.1559C>T

1 paper

NM_007046.4

p.G593C

c.1777G>T

2 papers

NM_007046.4

p.R594H

c.1781G>A

1 paper

NM_007046.4

p.V504A

c.1511T>C

2 papers

NM_007046.4

p.R502H

c.1505G>A

1 paper

NM_007046.4

p.R463fs

c.1387_1388fs