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.S1147delFs

c.3439delA

Surrounding Variants

1 paper

NM_000138.5

p.S1147insFs

c.3440_3441ins10

1 paper

NM_000138.5

p.S1147Y

c.3440C>A

1 paper

NM_000138.5

p.S1147T

c.3439T>A

2 papers

NM_000138.5

p.S1147fs

c.3439_3440fs

55 papers

NM_000138.5

p.P1148A

c.3442C>G

2 papers

NM_000138.5

p.H1144_S1147delFs

c.3431_3441del11

1 paper

NM_000138.5

p.L1146R

c.3437T>G

2 papers

NM_000138.5

p.L1146P

c.3437T>C

2 papers

NM_000138.5

p.H1144del1

c.3430_3431delATG

1 paper

NM_000138.5

p.P1148insFs

c.3444dupC

1 paper

NM_000138.5

p.N1149S

c.3446A>G

1 paper

NM_000138.5

p.P1148_N1149del2

c.3442_3446del6