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

2 papers

NM_000138.5

p.H219fs

c.655_656fs

Surrounding Variants

2 papers

NM_000138.5

p.G218insFs

c.653dupG

2 papers

NM_000138.5

p.G218D

c.653G>A

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

4 papers

NM_000138.5

p.W217*

c.651G>A

4 papers

NM_000138.5

p.W217*

c.650G>A

14 papers

NM_000138.5

p.W217G

c.649T>G

3 papers

NM_000138.5

p.W217R

c.649T>C

3 papers

NM_000138.5

p.W217R

c.649T>A

1 paper

NM_000138.5

p.C221fs

c.661_662fs

1 paper

NM_000138.5

p.A216delFs

c.648delG