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.R1806Q

c.5417G>A

Surrounding Variants

1 paper

NM_032447.5

p.E1808*

c.5422G>T

1 paper

NM_032447.5

p.I1812V

c.5434A>G

1 paper

NM_032447.5

p.G1826D

c.5477G>A

1 paper

NM_032447.5

p.S1839F

c.5516C>T

1 paper

NM_032447.5

p.L1844L

c.5530C>T

1 paper

NM_032447.5

p.D1847N

c.5539G>A

1 paper

NM_032447.5

p.C1791R

c.5371T>C

1 paper

NM_032447.5

p.G1785S

c.5353G>A

1 paper

NM_032447.5

p.P1784P

c.5352C>T

1 paper

NM_032447.5

p.E1850_C1851ins3

c.5550_5551ins9

1 paper

NM_032447.5

p.R1853Q

c.5558G>A

1 paper

NM_032447.5

p.I1865V

c.5593A>G