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.A1015fs

c.3043_3044fs

Surrounding Variants

1 paper

NM_000138.5

p.T1016A

c.3046A>G

1 paper

NM_000138.5

p.F1014insFs

c.3042dupT

3 papers

NM_000138.5

p.A1015P

c.3043G>C

10 papers

NM_000138.5

p.A1015T

c.3043G>A

1 paper

NM_000138.5

p.T1016delFs

c.3047delG

41 papers

NM_000138.5

p.G1013R

c.3037G>C

44 papers

NM_000138.5

p.G1013R

c.3037G>A

1 paper

NM_000138.5

p.E1018G

c.3053A>G

1 paper

NM_000138.5

p.P1012H

c.3035C>A

1 paper

NM_000138.5

p.P1012A

c.3034C>G

1 paper

NM_000138.5

p.G1011V

c.3032G>T

2 papers

NM_000138.5

p.G1011E

c.3032G>A