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

2 papers

NM_000138.5

p.N1046S

c.3137A>G

Surrounding Variants

1 paper

NM_000138.5

p.T1047T

c.3141C>T

1 paper

NM_000138.5

p.R1045G

c.3133A>G

2 papers

NM_000138.5

p.C1044*

c.3132C>A

6 papers

NM_000138.5

p.I1048V

c.3142A>G

29 papers

NM_000138.5

p.I1048T

c.3143T>C

8 papers

NM_000138.5

p.C1044Y

c.3131G>A

1 paper

NM_000138.5

p.C1044G

c.3130T>G

2 papers

NM_000138.5

p.C1044R

c.3130T>C

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.K1043delFs

c.3128delT