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.G551D

c.1652G>A

Surrounding Variants

2 papers

NM_000138.5

p.G551S

c.1651G>A

1 paper

NM_000138.5

p.T549_D550Fs

c.1646_1649delinsGTFs

2 papers

NM_000138.5

p.T549delFs

c.1646_1647delTG

1 paper

NM_000138.5

p.F553I

c.1657T>A

1 paper

NM_000138.5

p.T549fs

c.1645_1646fs

3 papers

NM_000138.5

p.F553C

c.1658T>G

1 paper

NM_000138.5

p.T549R

c.1646C>G

1 paper

NM_000138.5

p.T549fs

c.1645_1646fs

14 papers

NM_000138.5

p.N548I

c.1643A>T

1 paper

NM_000138.5

p.H554R

c.1661A>G

1 paper

NM_000138.5

p.N548T

c.1643A>C

4 papers

NM_000138.5

p.C555R

c.1663T>C