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

7 papers

NM_000138.5

p.P1090S

c.3268C>T

Surrounding Variants

1 paper

NM_000138.5

p.P1090fs

c.3268_3269fs

1 paper

NM_000138.5

p.P1090fs

c.3268_3269fs

1 paper

NM_000138.5

p.T1089N

c.3266C>A

1 paper

NM_000138.5

p.G1091fs

c.3271_3272fs

1 paper

NM_000138.5

p.P1090_G1091ins0

c.3269_3271dupCTG

2 papers

NM_000138.5

p.G1091A

c.3272G>C

1 paper

NM_000138.5

p.G1091E

c.3272G>A

6 papers

NM_000138.5

p.N1088I

c.3263A>T

2 papers

NM_000138.5

p.N1088S

c.3263A>G

1 paper

NM_000138.5

p.G1091insFs

c.3271dupG

1 paper

NM_000138.5

p.D1092delFs

c.3274delC

3 papers

NM_000138.5

p.C1086W

c.3258T>G