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.L812L

c.2436C>T

Surrounding Variants

1 paper

NM_007046.4

p.D802N

c.2404G>A

1 paper

NM_007046.4

p.R789Q

c.2366G>A

1 paper

NM_007046.4

p.G781R

c.2341G>A

1 paper

NM_007046.4

p.G781R

c.2341G>C

1 paper

NM_007046.4

p.L758R

c.2273T>G

1 paper

NM_007046.4

p.R753T

c.2258G>C

1 paper

NM_007046.4

p.A741A

c.2223T>C

1 paper

NM_007046.4

p.E731delFs

c.2193delG

1 paper

NM_007046.4

p.D683A

c.2048A>C

1 paper

NM_007046.4

p.D674N

c.2020G>A

1 paper

NM_007046.4

p.A819_Q828insFs

c.2457_2482dup26

1 paper

NM_007046.4

p.N658S

c.1973A>G