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.T241delFs

c.721_722delGT

Surrounding Variants

1 paper

NM_000138.5

p.T241fs

c.721_722fs

2 papers

NM_000138.5

p.T241M

c.722C>T

2 papers

NM_000138.5

p.T241delFs

c.723delC

1 paper

NM_000138.5

p.R240L

c.719G>T

9 papers

NM_000138.5

p.R240H

c.719G>A

37 papers

NM_000138.5

p.R240C

c.718C>T

1 paper

NM_000138.5

p.A243delFs

c.728delG

2 papers

NM_000138.5

p.C244F

c.731G>T

1 paper

NM_000138.5

p.C244Y

c.731G>A

2 papers

NM_000138.5

p.N238N

c.714T>C

3 papers

NM_000138.5

p.Q245*

c.733C>T

1 paper

NM_000138.5

p.D246Y

c.736G>T