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.G2691S

c.8071G>A

Surrounding Variants

1 paper

NM_000138.5

p.G2691R

c.8071G>C

3 papers

NM_000138.5

p.G2691D

c.8072G>A

6 papers

NM_000138.5

p.M2690R

c.8069T>G

1 paper

NM_000138.5

p.S2688F

c.8063C>T

1 paper

NM_000138.5

p.S2688C

c.8063C>G

14 papers

NM_000138.5

p.R2694*

c.8080C>T

1 paper

NM_000138.5

p.R2694G

c.8080C>G

1 paper

NM_000138.5

p.V2687fs

c.8059_8060fs

1 paper

NM_000138.5

p.V2687delFs

c.8059_8060delAC

8 papers

NM_000138.5

p.R2694Q

c.8081G>A

1 paper

NM_000138.5

p.V2687A

c.8060T>C

1 paper

NM_000138.5

p.V2687I

c.8059G>A