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.M1034I

c.3102G>A

Surrounding Variants

2 papers

NM_000138.5

p.M1034I

c.3102G>T

2 papers

NM_000138.5

p.M1034I

c.3102G>C

1 paper

NM_000138.5

p.M1034V

c.3100A>G

1 paper

NM_000138.5

p.K1033delFs

c.3097delT

1 paper

NM_000138.5

p.C1032*

c.3096C>A

14 papers

NM_000138.5

p.C1032Y

c.3095G>A

1 paper

NM_000138.5

p.C1032R

c.3094T>C

3 papers

NM_000138.5

p.E1031D

c.3093G>T

2 papers

NM_000138.5

p.E1031D

c.3093G>C

3 papers

NM_000138.5

p.L1038F

c.3112C>T

1 paper

NM_000138.5

p.E1031*

c.3091G>T

2 papers

NM_000138.5

p.E1031K

c.3091G>A