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.P2697delFs

c.8090delG

Surrounding Variants

1 paper

NM_000138.5

p.E2698*

c.8092G>T

1 paper

NM_000138.5

p.P2697T

c.8089C>A

1 paper

NM_000138.5

p.P2697fs

c.8089_8090fs

1 paper

NM_000138.5

p.E2698D

c.8094G>T

1 paper

NM_000138.5

p.E2698D

c.8094G>C

1 paper

NM_000138.5

p.P2699fs

c.8095_8096fs

3 papers

NM_000138.5

p.P2699delFs

c.8096delG

1 paper

NM_000138.5

p.G2695E

c.8084G>A

1 paper

NM_000138.5

p.P2700S

c.8098C>T

8 papers

NM_000138.5

p.R2694Q

c.8081G>A

1 paper

NM_000138.5

p.V2701I

c.8101G>A

14 papers

NM_000138.5

p.R2694*

c.8080C>T