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.T249S

c.745A>T

Surrounding Variants

2 papers

NM_007046.4

p.R250C

c.748C>T

1 paper

NM_007046.4

p.R250R

c.750C>G

1 paper

NM_007046.4

p.D255N

c.763G>A

1 paper

NM_007046.4

p.H242Y

c.724C>T

1 paper

NM_007046.4

p.E257K

c.769G>A

1 paper

NM_007046.4

p.A227T

c.679G>A

1 paper

NM_007046.4

p.P277insFs

c.831dupA

1 paper

NM_007046.4

p.V210A

c.629T>C

1 paper

NM_007046.4

p.R205delFs

c.615delC

1 paper

NM_007046.4

p.S203delFs

c.609delC

1 paper

NM_007046.4

p.S203fs

c.607_608fs

1 paper

NM_007046.4

p.R297Q

c.890G>A