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

1 paper

NM_032447.5

p.V1580I

c.4738G>A

Surrounding Variants

1 paper

NM_032447.5

p.C1579G

c.4735T>G

1 paper

NM_032447.5

p.T1582K

c.4745C>A

1 paper

NM_032447.5

p.C1590F

c.4769G>T

1 paper

NM_032447.5

p.Y1594*

c.4782C>G

1 paper

NM_032447.5

p.Y1594*

c.4782C>A

1 paper

NM_032447.5

p.R1601H

c.4802G>A

1 paper

NM_032447.5

p.R1556fs

c.4666_4667fs

1 paper

NM_032447.5

p.R1556H

c.4667G>A

1 paper

NM_032447.5

p.R1556delFs

c.4666delG

1 paper

NM_032447.5

p.R1556C

c.4666C>T

1 paper

NM_032447.5

p.P1547insFs

c.4641dupG

1 paper

NM_032447.5

p.E1608G

c.4823A>G