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

6 papers

NM_000138.5

p.R976C

c.2926C>T

Surrounding Variants

1 paper

NM_000138.5

p.R974_R976Fs

c.2921_2926delinsTATTGCAGFs

15 papers

NM_000138.5

p.R976H

c.2927G>A

1 paper

NM_000138.5

p.H975Y

c.2923C>T

1 paper

NM_000138.5

p.M977V

c.2929A>G

2 papers

NM_000138.5

p.M977R

c.2930T>G

2 papers

NM_000138.5

p.M977I

c.2931G>T

1 paper

NM_000138.5

p.R974L

c.2921G>T

2 papers

NM_000138.5

p.M977I

c.2931G>C

2 papers

NM_000138.5

p.M977I

c.2931G>A

1 paper

NM_000138.5

p.R974H

c.2921G>A

17 papers

NM_000138.5

p.R974C

c.2920C>T

1 paper

NM_000138.5

p.R974fs

c.2920_2921fs