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

5 papers

NM_000138.5

p.H229L

c.686A>T

Surrounding Variants

1 paper

NM_000138.5

p.P228insFs

c.683_684insC

2 papers

NM_000138.5

p.P228fs

c.682_683fs

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

1 paper

NM_000138.5

p.A226insFs

c.678dupC

3 papers

NM_000138.5

p.Q227*

c.679C>T

1 paper

NM_000138.5

p.C231*

c.693C>A

2 papers

NM_000138.5

p.A226A

c.678C>T

1 paper

NM_000138.5

p.R232P

c.695G>C

1 paper

NM_000138.5

p.R232H

c.695G>A

6 papers

NM_000138.5

p.A226V

c.677C>T