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

4 papers

NM_000138.5

p.P1009R

c.3026C>G

Surrounding Variants

2 papers

NM_000138.5

p.P1009L

c.3026C>T

1 paper

NM_000138.5

p.C1008_P1009delFs

c.3024_3025delGA

4 papers

NM_000138.5

p.C1008Y

c.3023G>A

2 papers

NM_000138.5

p.C1008R

c.3022T>C

1 paper

NM_000138.5

p.G1011*

c.3031G>T

2 papers

NM_000138.5

p.G1011R

c.3031G>C

2 papers

NM_000138.5

p.G1011R

c.3031G>A

1 paper

NM_000138.5

p.L1007R

c.3020T>G

1 paper

NM_000138.5

p.G1011V

c.3032G>T

2 papers

NM_000138.5

p.G1011E

c.3032G>A

2 papers

NM_000138.5

p.E1006D

c.3018G>T

2 papers

NM_000138.5

p.E1006D

c.3018G>C