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

4 papers

NM_000138.5

p.R954P

c.2861G>C

Surrounding Variants

1 paper

NM_000138.5

p.R954L

c.2861G>T

4 papers

NM_000138.5

p.R954H

c.2861G>A

19 papers

NM_000138.5

p.R954C

c.2860C>T

1 paper

NM_000138.5

p.L955V

c.2863C>G

1 paper

NM_000138.5

p.I953fs

c.2857_2858fs

1 paper

NM_000138.5

p.I953delFs

c.2858delA

2 papers

NM_000138.5

p.I953delFs

c.2857_2858delAT

1 paper

NM_000138.5

p.I953S

c.2858T>G

1 paper

NM_000138.5

p.E956G

c.2867A>G

3 papers

NM_000138.5

p.D952H

c.2854G>C

1 paper

NM_000138.5

p.D952N

c.2854G>A

2 papers

NM_000138.5

p.D952Splc

c.2855-2A>G