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.C981S

c.2942G>C

Surrounding Variants

1 paper

NM_000138.5

p.C981Y

c.2942G>A

4 papers

NM_000138.5

p.C981S

c.2941T>A

1 paper

NM_000138.5

p.C982G

c.2944T>G

3 papers

NM_000138.5

p.C980S

c.2939G>C

5 papers

NM_000138.5

p.C980Y

c.2939G>A

4 papers

NM_000138.5

p.C980S

c.2938T>A

1 paper

NM_000138.5

p.C982W

c.2946C>G

1 paper

NM_000138.5

p.S983_V984ins4

c.2947_2951ins12

1 paper

NM_000138.5

p.S983F

c.2948C>T

1 paper

NM_000138.5

p.A979T

c.2935G>A

2 papers

NM_000138.5

p.V984F

c.2950G>T

10 papers

NM_000138.5

p.V984I

c.2950G>A