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.E571*

c.1711G>T

Surrounding Variants

1 paper

NM_000138.5

p.C570W

c.1710T>G

10 papers

NM_000138.5

p.C570S

c.1709G>C

6 papers

NM_000138.5

p.C570Y

c.1709G>A

1 paper

NM_000138.5

p.D566_E571del0

c.1698_1712del15

1 paper

NM_000138.5

p.C570G

c.1708T>G

8 papers

NM_000138.5

p.C570R

c.1708T>C

9 papers

NM_000138.5

p.C570S

c.1708T>A

1 paper

NM_000138.5

p.D572Splc

c.1714+1G>A

1 paper

NM_000138.5

p.V556_E571del16

c.1666_1712del48

1 paper

NM_000138.5

p.N569K

c.1707C>G

1 paper

NM_000138.5

p.N569K

c.1707C>A

1 paper

NM_000138.5

p.D572Splc

c.1714+2T>C