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

29 papers

NM_000138.5

p.I1048T

c.3143T>C

Surrounding Variants

6 papers

NM_000138.5

p.I1048V

c.3142A>G

5 papers

NM_000138.5

p.G1049S

c.3145G>A

2 papers

NM_000138.5

p.I1048delFs

c.3144delA

1 paper

NM_000138.5

p.I1048del1

c.3142_3144delAAT

1 paper

NM_000138.5

p.T1047T

c.3141C>T

1 paper

NM_000138.5

p.G1049A

c.3146G>C

1 paper

NM_000138.5

p.G1049D

c.3146G>A

1 paper

NM_000138.5

p.G1049delFs

c.3146delC

3 papers

NM_000138.5

p.S1050C

c.3148A>T

2 papers

NM_000138.5

p.N1046S

c.3137A>G

3 papers

NM_000138.5

p.F1051C

c.3152T>G

1 paper

NM_000138.5

p.F1051S

c.3152T>C