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

28 papers

NM_000138.5

p.R565*

c.1693C>T

Surrounding Variants

1 paper

NM_000138.5

p.T564delFs

c.1692delT

1 paper

NM_000138.5

p.R565Q

c.1694G>A

1 paper

NM_000138.5

p.T564T

c.1692A>G

2 papers

NM_000138.5

p.T564fs

c.1690_1691fs

1 paper

NM_000138.5

p.T564I

c.1691C>T

1 paper

NM_000138.5

p.R565delFs

c.1694delC

1 paper

NM_000138.5

p.V563G

c.1688T>G

1 paper

NM_000138.5

p.H562fs

c.1684_1685fs

1 paper

NM_000138.5

p.F561delFs

c.1681_1682delAA

2 papers

NM_000138.5

p.G560V

c.1679G>T

5 papers

NM_000138.5

p.G560D

c.1679G>A

1 paper

NM_000138.5

p.N569K

c.1707C>G