Varaico: Literature-Extracted Genetic Variants

FBN3

227 papers

RefSeq Summary

This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed...

Pfam Domains

Fibrillin_U_Naa 47–83UCSCFibrillin 1 unique N-terminal domain

EGF_FBN_1staa 90–111UCSCFibrillin, first EGF domain

TBaa 194–232UCSCTB domain

EGF_CAaa 247–287UCSCCalcium-binding EGF domain

TBaa 302–346UCSCTB domain

hEGFaa 419–439UCSCHuman growth factor-like EGF

Gene Aliases

HGNC Name

fibrillin 3

HGNC Alias Symbol

KIAA1776

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_032447.5

p.D868N

c.2602G>A

Surrounding Variants

1 paper

NM_032447.5

p.E850K

c.2548G>A

1 paper

NM_032447.5

p.G843G

c.2529G>A

1 paper

NM_032447.5

p.C835C

c.2505C>T

1 paper

NM_032447.5

p.L830L

c.2490G>A

1 paper

NM_032447.5

p.C821R

c.2461T>C

1 paper

NM_032447.5

p.E872K

c.2614G>A

1 paper

NM_032447.5

p.F876L

c.2626T>C

1 paper

NM_032447.5

p.F876L

c.2628C>G

1 paper

NM_032447.5

p.F876L

c.2628C>A

1 paper

NM_032447.5

p.R884S

c.2650C>A

1 paper

NM_032447.5

p.V886I

c.2656G>A

1 paper

NM_032447.5

p.C896Y

c.2687G>A