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.G395C

c.1183G>T

Surrounding Variants

1 paper

NM_007046.4

p.P397S

c.1189C>T

1 paper

NM_007046.4

p.A391E

c.1172C>A

1 paper

NM_007046.4

p.A391S

c.1171G>T

1 paper

NM_007046.4

p.E386D

c.1158G>C

1 paper

NM_007046.4

p.E386D

c.1158G>T

1 paper

NM_007046.4

p.N415_S416ins4

c.1243_1247ins12

1 paper

NM_007046.4

p.V371V

c.1113C>T

1 paper

NM_007046.4

p.D370N

c.1108G>A

1 paper

NM_007046.4

p.R367C

c.1099C>T

1 paper

NM_007046.4

p.R361Q

c.1082G>A

1 paper

NM_007046.4

p.P429L

c.1286C>T

1 paper

NM_007046.4

p.R360Q

c.1079G>A