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.T143delFs

c.427delT

Surrounding Variants

1 paper

NM_000138.5

p.H144insFs

c.430_431insTC

1 paper

NM_000138.5

p.H144fs

c.430_431fs

2 papers

NM_000138.5

p.G142V

c.425G>T

2 papers

NM_000138.5

p.H144insFs

c.431_432insTC

1 paper

NM_000138.5

p.H144delFs

c.430delG

1 paper

NM_000138.5

p.G142R

c.424G>A

1 paper

NM_000138.5

p.H144fs

c.430_431fs

1 paper

NM_000138.5

p.H144delFs

c.431delT

6 papers

NM_000138.5

p.C145R

c.433T>C

5 papers

NM_000138.5

p.C145Y

c.434G>A

1 paper

NM_000138.5

p.H144_C145delFs

c.430_433del4

1 paper

NM_000138.5

p.G146*

c.436G>T