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.D2607Splc

c.7819+5G>A

Surrounding Variants

1 paper

NM_000138.5

p.D2607Splc

c.7819+3A>C

2 papers

NM_000138.5

p.D2607Splc

c.7819+1G>A

1 paper

NM_000138.5

p.V2606del1

c.7816_7817delAAC

2 papers

NM_000138.5

p.D2607N

c.7819G>A

1 paper

NM_000138.5

p.V2606fs

c.7816_7817fs

1 paper

NM_000138.5

p.V2606delFs

c.7816_7817delAC

1 paper

NM_000138.5

p.V2606D

c.7817T>A

1 paper

NM_000138.5

p.V2606insFs

c.7816_7817insT

2 papers

NM_000138.5

p.V2606I

c.7816G>A

1 paper

NM_000138.5

p.C2605*

c.7815T>A

1 paper

NM_000138.5

p.C2605F

c.7814G>T

3 papers

NM_000138.5

p.C2605Y

c.7814G>A