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.Q198R

c.593A>G

Surrounding Variants

1 paper

NM_000138.5

p.Q198*

c.592C>T

1 paper

NM_000138.5

p.Q198H

c.594A>T

1 paper

NM_000138.5

p.Q198H

c.594A>C

1 paper

NM_000138.5

p.G197E

c.590G>A

1 paper

NM_000138.5

p.L199_S200insFs

c.597_598ins4

2 papers

NM_000138.5

p.S200N

c.599G>A

2 papers

NM_000138.5

p.Q196*

c.586C>T

3 papers

NM_000138.5

p.G201R

c.601G>C

3 papers

NM_000138.5

p.G201R

c.601G>A

1 paper

NM_000138.5

p.C195*

c.585C>A

1 paper

NM_000138.5

p.C195delins

c.584_585delinsAG

1 paper

NM_000138.5

p.C195delFs

c.584delC