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.T549fs

c.1645_1646fs

Surrounding Variants

2 papers

NM_000138.5

p.T549delFs

c.1646_1647delTG

1 paper

NM_000138.5

p.T549R

c.1646C>G

1 paper

NM_000138.5

p.T549_D550Fs

c.1646_1649delinsGTFs

1 paper

NM_000138.5

p.T549fs

c.1645_1646fs

2 papers

NM_000138.5

p.G551S

c.1651G>A

14 papers

NM_000138.5

p.N548I

c.1643A>T

1 paper

NM_000138.5

p.N548T

c.1643A>C

2 papers

NM_000138.5

p.G551D

c.1652G>A

1 paper

NM_000138.5

p.I547T

c.1640T>C

1 paper

NM_000138.5

p.I547V

c.1639A>G

7 papers

NM_000138.5

p.C546W

c.1638C>G

1 paper

NM_000138.5

p.C546_I547ins1

c.1638_1639insTGC