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.H2685Q

c.8055C>G

Surrounding Variants

2 papers

NM_000138.5

p.H2685Q

c.8055C>A

4 papers

NM_000138.5

p.C2686R

c.8056T>C

2 papers

NM_000138.5

p.H2685R

c.8054A>G

4 papers

NM_000138.5

p.C2686F

c.8057G>T

2 papers

NM_000138.5

p.H2685fs

c.8053_8054fs

1 paper

NM_000138.5

p.V2687I

c.8059G>A

1 paper

NM_000138.5

p.G2684Splc

c.8052-1G>A

1 paper

NM_000138.5

p.V2687A

c.8060T>C

1 paper

NM_000138.5

p.G2684Splc

c.8052-2A>G

1 paper

NM_000138.5

p.V2687fs

c.8059_8060fs

1 paper

NM_000138.5

p.V2687delFs

c.8059_8060delAC

1 paper

NM_000138.5

p.S2688F

c.8063C>T