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.G214R

c.640G>C

Surrounding Variants

29 papers

NM_000138.5

p.G214S

c.640G>A

3 papers

NM_000138.5

p.G214D

c.641G>A

1 paper

NM_000138.5

p.G214delFs

c.640delC

3 papers

NM_000138.5

p.T212delFs

c.635_636delTG

12 papers

NM_000138.5

p.R215*

c.643C>T

1 paper

NM_000138.5

p.T212K

c.635C>A

1 paper

NM_000138.5

p.R215fs

c.643_644fs

2 papers

NM_000138.5

p.T212P

c.634A>C

14 papers

NM_000138.5

p.W217G

c.649T>G

3 papers

NM_000138.5

p.W217R

c.649T>C

3 papers

NM_000138.5

p.W217R

c.649T>A

1 paper

NM_000138.5

p.A216delFs

c.648delG