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.G43W

c.127G>T

Surrounding Variants

2 papers

NM_007046.4

p.P41fs

c.121_122fs

1 paper

NM_007046.4

p.S40insFs

c.119dupG

1 paper

NM_007046.4

p.R51delFs

c.151delC

1 paper

NM_007046.4

p.R51W

c.151C>T

1 paper

NM_007046.4

p.R55C

c.163C>T

5 papers

NM_007046.4

p.A22T

c.64G>A

1 paper

NM_007046.4

p.T16M

c.47C>T

1 paper

NM_007046.4

p.S8I

c.23G>T

3 papers

NM_007046.4

p.S8C

c.22A>T

1 paper

NM_007046.4

p.R57Splc

c.170+62T>C

1 paper

NM_007046.4

p.M1delins

c.3delinsTTTTAGATCCATATTTTAG

1 paper

NM_007046.4

p.Y62F

c.185A>T