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.D1113Splc

c.3338-1G>C

Surrounding Variants

2 papers

NM_000138.5

p.D1113Splc

c.3338-1G>A

2 papers

NM_000138.5

p.D1113V

c.3338A>T

12 papers

NM_000138.5

p.D1113G

c.3338A>G

1 paper

NM_000138.5

p.D1113Splc

c.3338-2A>G

2 papers

NM_000138.5

p.D1113Splc

c.3338-2A>C

1 paper

NM_000138.5

p.D1113A

c.3338A>C

1 paper

NM_000138.5

p.I1114V

c.3340A>G

1 paper

NM_000138.5

p.D1115fs

c.3343_3344fs

2 papers

NM_000138.5

p.D1115H

c.3343G>C

13 papers

NM_000138.5

p.D1115G

c.3344A>G

1 paper

NM_000138.5

p.D1115A

c.3344A>C

1 paper

NM_000138.5

p.D1115E

c.3345T>G