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

9 papers

NM_000138.5

p.R2576C

c.7726C>T

Surrounding Variants

2 papers

NM_000138.5

p.R2576H

c.7727G>A

2 papers

NM_000138.5

p.C2577R

c.7729T>C

2 papers

NM_000138.5

p.C2577Y

c.7730G>A

1 paper

NM_000138.5

p.N2574insFs

c.7721dupA

1 paper

NM_000138.5

p.Q2578*

c.7732C>T

3 papers

NM_000138.5

p.Q2578K

c.7732C>A

1 paper

NM_000138.5

p.G2573R

c.7717G>C

2 papers

NM_000138.5

p.C2571W

c.7713T>G

2 papers

NM_000138.5

p.C2571*

c.7713T>A

1 paper

NM_000138.5

p.G2580D

c.7739G>A

7 papers

NM_000138.5

p.C2571Y

c.7712G>A

3 papers

NM_000138.5

p.C2571R

c.7711T>C