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

1–12 of 111 variants

5 papers

NM_007046.4

p.A22T

c.64G>A

5 papers

NM_007046.4

p.E903K

c.2707G>A

3 papers

NM_007046.4

p.S8C

c.22A>T

2 papers

NM_007046.4

p.P41fs

c.121_122fs

2 papers

NM_007046.4

p.R66Q

c.197G>A

2 papers

NM_007046.4

p.V68M

c.202G>A

2 papers

NM_007046.4

p.R250C

c.748C>T

2 papers

NM_007046.4

p.L449fs

c.1345_1346fs

2 papers

NM_007046.4

p.R502H

c.1505G>A

2 papers

NM_007046.4

p.Q536*

c.1606C>T

2 papers

NM_007046.4

p.R594H

c.1781G>A

1 paper

NM_007046.4

p.M1delins

c.3delinsTTTTAGATCCATATTTTAG