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.D530Splc

c.1589-12C>G

Surrounding Variants

4 papers

NM_000138.5

p.D530Splc

c.1589-14A>G

2 papers

NM_000138.5

p.D530Splc

c.1589-9T>A

1 paper

NM_000138.5

p.D530Splc

c.1589-2A>G

1 paper

NM_000138.5

p.D530Splc

c.1589-2A>C

6 papers

NM_000138.5

p.D530Splc

c.1589-1G>A

1 paper

NM_000138.5

p.D530fs

c.1588_1589fs

2 papers

NM_000138.5

p.D530G

c.1589A>G

2 papers

NM_000138.5

p.I531fs

c.1591_1592fs

1 paper

NM_000138.5

p.D532H

c.1594G>C

3 papers

NM_000138.5

p.D532G

c.1595A>G

1 paper

NM_000138.5

p.D532insFs

c.1594dupG

1 paper

NM_000138.5

p.E533K

c.1597G>A