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.E965A

c.2894A>C

Surrounding Variants

1 paper

NM_000138.5

p.E965*

c.2893G>T

1 paper

NM_000138.5

p.E965Q

c.2893G>C

3 papers

NM_000138.5

p.E965K

c.2893G>A

1 paper

NM_000138.5

p.E965E

c.2895G>A

3 papers

NM_000138.5

p.E966*

c.2896G>T

2 papers

NM_000138.5

p.D964D

c.2892C>T

2 papers

NM_000138.5

p.D964N

c.2890G>A

1 paper

NM_000138.5

p.E963fs

c.2887_2888fs

2 papers

NM_000138.5

p.E963Q

c.2887G>C

1 paper

NM_000138.5

p.C967C

c.2901C>T

3 papers

NM_000138.5

p.Y962*

c.2886C>G

1 paper

NM_000138.5

p.Y962_E963insFs

c.2886_2887insA