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.S1151_A1152del2

c.3451_3455del6

Surrounding Variants

2 papers

NM_000138.5

p.C1153F

c.3458G>T

6 papers

NM_000138.5

p.C1153S

c.3458G>C

14 papers

NM_000138.5

p.C1153Y

c.3458G>A

1 paper

NM_000138.5

p.C1153R

c.3457T>C

4 papers

NM_000138.5

p.C1153S

c.3457T>A

11 papers

NM_000138.5

p.A1152V

c.3455C>T

2 papers

NM_000138.5

p.A1152T

c.3454G>A

1 paper

NM_000138.5

p.D1155Y

c.3463G>T

3 papers

NM_000138.5

p.D1155H

c.3463G>C

16 papers

NM_000138.5

p.D1155N

c.3463G>A

4 papers

NM_000138.5

p.D1155Splc

c.3463+1G>T

3 papers

NM_000138.5

p.D1155Splc

c.3463+1G>A