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

24 papers

NM_000138.5

p.A986T

c.2956G>A

Surrounding Variants

1 paper

NM_000138.5

p.A986V

c.2957C>T

6 papers

NM_000138.5

p.G985E

c.2954G>A

14 papers

NM_000138.5

p.G985R

c.2953G>C

18 papers

NM_000138.5

p.G985R

c.2953G>A

1 paper

NM_000138.5

p.A987fs

c.2959_2960fs

3 papers

NM_000138.5

p.V984V

c.2952C>A

2 papers

NM_000138.5

p.V984D

c.2951T>A

2 papers

NM_000138.5

p.V984F

c.2950G>T

10 papers

NM_000138.5

p.V984I

c.2950G>A

2 papers

NM_000138.5

p.W988fs

c.2962_2963fs

5 papers

NM_000138.5

p.W988*

c.2963G>A

3 papers

NM_000138.5

p.W988*

c.2964G>A