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.H219_P220delFs

c.657_658delGG

Surrounding Variants

1 paper

NM_000138.5

p.C221fs

c.661_662fs

2 papers

NM_000138.5

p.C221delFs

c.661delA

1 paper

NM_000138.5

p.P220_C221delFs

c.660_661delAG

1 paper

NM_000138.5

p.C221*

c.663T>A

1 paper

NM_000138.5

p.E222*

c.664G>T

1 paper

NM_000138.5

p.H219Q

c.657C>G

1 paper

NM_000138.5

p.H219Q

c.657C>A

2 papers

NM_000138.5

p.H219delFs

c.656delT

2 papers

NM_000138.5

p.H219fs

c.655_656fs

1 paper

NM_000138.5

p.M223insFs

c.667dupA

2 papers

NM_000138.5

p.G218insFs

c.653dupG

2 papers

NM_000138.5

p.G218D

c.653G>A