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

3 papers

NM_000138.5

p.C2571R

c.7711T>C

Surrounding Variants

7 papers

NM_000138.5

p.C2571Y

c.7712G>A

2 papers

NM_000138.5

p.C2571W

c.7713T>G

2 papers

NM_000138.5

p.C2571*

c.7713T>A

8 papers

NM_000138.5

p.E2570K

c.7708G>A

1 paper

NM_000138.5

p.D2569Y

c.7705G>T

1 paper

NM_000138.5

p.G2573R

c.7717G>C

1 paper

NM_000138.5

p.V2568_D2569insFs

c.7704_7705ins4

1 paper

NM_000138.5

p.V2568fs

c.7702_7703fs

6 papers

NM_000138.5

p.V2568M

c.7702G>A

1 paper

NM_000138.5

p.N2574insFs

c.7721dupA

1 paper

NM_000138.5

p.D2567N

c.7699G>A

9 papers

NM_000138.5

p.R2576C

c.7726C>T