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.D1028G

c.3083A>G

Surrounding Variants

6 papers

NM_000138.5

p.D1028V

c.3083A>T

2 papers

NM_000138.5

p.D1028Y

c.3082G>T

1 paper

NM_000138.5

p.D1028H

c.3082G>C

2 papers

NM_000138.5

p.D1028Splc

c.3083-2A>G

3 papers

NM_000138.5

p.D1028Splc

c.3083-2A>C

1 paper

NM_000138.5

p.N1030fs

c.3088_3089fs

7 papers

NM_000138.5

p.N1030S

c.3089A>G

1 paper

NM_000138.5

p.N1030delFs

c.3089delT

2 papers

NM_000138.5

p.D1028Splc

c.3083-8T>G

1 paper

NM_000138.5

p.E1031*

c.3091G>T

2 papers

NM_000138.5

p.E1031K

c.3091G>A

3 papers

NM_000138.5

p.E1031D

c.3093G>T