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.A2714V

c.8141C>T

Surrounding Variants

1 paper

NM_000138.5

p.A2714G

c.8141C>G

1 paper

NM_000138.5

p.A2714S

c.8140G>T

1 paper

NM_000138.5

p.A2714P

c.8140G>C

1 paper

NM_000138.5

p.L2710_E2713del4

c.8128_8138del12

1 paper

NM_000138.5

p.C2715C

c.8145T>C

1 paper

NM_000138.5

p.P2712fs

c.8134_8135fs

2 papers

NM_000138.5

p.P2712delFs

c.8135delG

5 papers

NM_000138.5

p.Y2716*

c.8148C>G

4 papers

NM_000138.5

p.Y2716insFs

c.8147_8148insA

5 papers

NM_000138.5

p.Y2716*

c.8148C>A

1 paper

NM_000138.5

p.P2712fs

c.8134_8135fs

3 papers

NM_000138.5

p.E2717*

c.8149G>T