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.Q117H

c.351A>T

Surrounding Variants

1 paper

NM_000138.5

p.Q117H

c.351A>C

1 paper

NM_000138.5

p.Q117L

c.350A>T

1 paper

NM_000138.5

p.Q117delFs

c.349delG

1 paper

NM_000138.5

p.Q117*

c.349C>T

1 paper

NM_000138.5

p.I116delFs

c.347delA

1 paper

NM_000138.5

p.C119G

c.355T>G

3 papers

NM_000138.5

p.C119R

c.355T>C

1 paper

NM_000138.5

p.C119Y

c.356G>A

1 paper

NM_000138.5

p.I116Splc

c.347-1G>A

2 papers

NM_000138.5

p.C119*

c.357C>A

4 papers

NM_000138.5

p.I116Splc

c.347-2A>G

1 paper

NM_000138.5

p.I116Splc

c.347-2A>C