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.L877R

c.2630T>G

Surrounding Variants

5 papers

NM_007046.4

p.E903K

c.2707G>A

1 paper

NM_007046.4

p.G853Splc

c.2558-90G>C

1 paper

NM_007046.4

p.E930A

c.2789A>C

1 paper

NM_007046.4

p.P957S

c.2869C>T

1 paper

NM_007046.4

p.M989I

c.2967G>A

1 paper

NM_007046.4

p.M989I

c.2967G>C

1 paper

NM_007046.4

p.M989I

c.2967G>T

1 paper

NM_007046.4

p.L992Q

c.2975T>A

1 paper

NM_007046.4

p.G1009V

c.3026G>T

1 paper

NM_007046.4

p.A819_Q828insFs

c.2457_2482dup26

1 paper

NM_007046.4

p.L812L

c.2436C>T

1 paper

NM_007046.4

p.D802N

c.2404G>A