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.R232H

c.695G>A

Surrounding Variants

1 paper

NM_000138.5

p.R232P

c.695G>C

1 paper

NM_000138.5

p.C231*

c.693C>A

5 papers

NM_000138.5

p.R233H

c.698G>A

1 paper

NM_000138.5

p.P230delFs

c.690delG

1 paper

NM_000138.5

p.P230delFs

c.689_690delGG

1 paper

NM_000138.5

p.A226_H229delFs

c.677_687del11

3 papers

NM_000138.5

p.G234V

c.701G>T

2 papers

NM_000138.5

p.G234D

c.701G>A

2 papers

NM_000138.5

p.R233_G234del1

c.699_701delCCA

2 papers

NM_000138.5

p.G234del1

c.700_701delGCC

5 papers

NM_000138.5

p.H229L

c.686A>T

1 paper

NM_000138.5

p.P228insFs

c.683_684insC