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.R463fs

c.1387_1388fs

Surrounding Variants

1 paper

NM_007046.4

p.L460P

c.1379T>C

1 paper

NM_007046.4

p.L449insFs

c.1347dupG

2 papers

NM_007046.4

p.L449fs

c.1345_1346fs

1 paper

NM_007046.4

p.A441T

c.1321G>A

1 paper

NM_007046.4

p.P429L

c.1286C>T

2 papers

NM_007046.4

p.R502H

c.1505G>A

1 paper

NM_007046.4

p.V504A

c.1511T>C

1 paper

NM_007046.4

p.N415_S416ins4

c.1243_1247ins12

1 paper

NM_007046.4

p.T520M

c.1559C>T

1 paper

NM_007046.4

p.T520T

c.1560G>A

1 paper

NM_007046.4

p.A524V

c.1571C>T

1 paper

NM_007046.4

p.P397S

c.1189C>T