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.M194insFs

c.580_581insC

Surrounding Variants

1 paper

NM_000138.5

p.M194L

c.580A>T

1 paper

NM_000138.5

p.M194L

c.580A>C

1 paper

NM_000138.5

p.I190_N192delFs

c.570_576del7

1 paper

NM_000138.5

p.M194K

c.581T>A

1 paper

NM_000138.5

p.Q193Q

c.579G>A

2 papers

NM_000138.5

p.Q193delFs

c.577delG

1 paper

NM_000138.5

p.Q193*

c.577C>T

1 paper

NM_000138.5

p.Q193E

c.577C>G

1 paper

NM_000138.5

p.F187_N192delFs

c.560_576del17

1 paper

NM_000138.5

p.C195F

c.584G>T

1 paper

NM_000138.5

p.C195insFs

c.584_585insTC

1 paper

NM_000138.5

p.C195*

c.585C>A