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

1–12 of 6136 variants

124 papers

NM_000138.5

p.C1039G

c.3115T>G

58 papers

NM_000138.5

p.R2726W

c.8176C>T

55 papers

NM_000138.5

p.P1148A

c.3442C>G

49 papers

NM_000138.5

p.G1127S

c.3379G>A

49 papers

NM_000138.5

p.I2585T

c.7754T>C

47 papers

NM_000138.5

p.E1073K

c.3217G>A

45 papers

NM_000138.5

p.R122C

c.364C>T

45 papers

NM_000138.5

p.R545C

c.1633C>T

44 papers

NM_000138.5

p.G1013R

c.3037G>A

41 papers

NM_000138.5

p.G1013R

c.3037G>C

38 papers

NM_000138.5

p.N2144S

c.6431A>G

37 papers

NM_000138.5

p.R240C

c.718C>T