Varaico: Literature-Extracted Genetic Variants

FBN1

1,753 papers

RefSeq Summary

This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1...

Pfam Domains

Fibrillin_U_Naa 44–82UCSCFibrillin 1 unique N-terminal domain

EGF_FBN_1staa 89–110UCSCFibrillin, first EGF domain

TBaa 193–231UCSCTB domain

EGF_CAaa 246–286UCSCCalcium-binding EGF domain

EGF_CAaa 288–328UCSCCalcium-binding EGF domain

TBaa 343–389UCSCTB domain

Gene Aliases

HGNC Name

fibrillin 1

HGNC Previous Symbols

MFS1; WMS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000138.5

p.R182insFs

c.545dupG

Surrounding Variants

1 paper

NM_000138.5

p.R182K

c.545G>A

1 paper

NM_000138.5

p.T183T

c.549A>T

1 paper

NM_000138.5

p.G184S

c.550G>A

1 paper

NM_000138.5

p.Y181*

c.543C>G

1 paper

NM_000138.5

p.Y181C

c.542A>G

1 paper

NM_000138.5

p.P185delFs

c.554delG

1 paper

NM_000138.5

p.C186R

c.556T>C

1 paper

NM_000138.5

p.P185delFs

c.555delT

1 paper

NM_000138.5

p.D180Splc

c.539-1G>T

1 paper

NM_000138.5

p.D180H

c.538G>C

2 papers

NM_000138.5

p.D180Splc

c.539-1G>A

2 papers

NM_000138.5

p.C186Y

c.557G>A