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

45 papers

NM_000138.5

p.R545C

c.1633C>T

Surrounding Variants

2 papers

NM_000138.5

p.R545S

c.1633C>A

2 papers

NM_000138.5

p.R545P

c.1634G>C

3 papers

NM_000138.5

p.R545H

c.1634G>A

1 paper

NM_000138.5

p.N543_R545delFs

c.1629_1633del5

1 paper

NM_000138.5

p.G544G

c.1632A>T

1 paper

NM_000138.5

p.G544G

c.1632A>G

1 paper

NM_000138.5

p.G544G

c.1632A>C

1 paper

NM_000138.5

p.G544V

c.1631G>T

1 paper

NM_000138.5

p.G544A

c.1631G>C

1 paper

NM_000138.5

p.G544E

c.1631G>A

2 papers

NM_000138.5

p.G544*

c.1630G>T

6 papers

NM_000138.5

p.G544R

c.1630G>C