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.Q2598fs

c.7792_7793fs

Surrounding Variants

2 papers

NM_000138.5

p.Q2598*

c.7792C>T

1 paper

NM_000138.5

p.L2597insFs

c.7790_7791insT

1 paper

NM_000138.5

p.Q2598insFs

c.7792dupC

1 paper

NM_000138.5

p.Q2598delFs

c.7792delG

1 paper

NM_000138.5

p.L2597H

c.7790T>A

1 paper

NM_000138.5

p.P2593_L2597delFs

c.7779_7789del11

1 paper

NM_000138.5

p.Y2596*

c.7788C>G

1 paper

NM_000138.5

p.Y2596*

c.7788C>A

1 paper

NM_000138.5

p.Y2600H

c.7798T>C

1 paper

NM_000138.5

p.G2595delFs

c.7785delG

1 paper

NM_000138.5

p.Y2596fs

c.7786_7787fs

3 papers

NM_000138.5

p.G2595V

c.7784G>T