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.E446E

c.1338G>A

Surrounding Variants

1 paper

NM_032447.5

p.G445D

c.1334G>A

1 paper

NM_032447.5

p.D442N

c.1324G>A

1 paper

NM_032447.5

p.V437V

c.1311G>C

3 papers

NM_032447.5

p.V437V

c.1311G>A

1 paper

NM_032447.5

p.N436N

c.1308C>T

1 paper

NM_032447.5

p.T427M

c.1280C>T

1 paper

NM_032447.5

p.C424*

c.1272C>A

1 paper

NM_032447.5

p.T416P

c.1246A>C

1 paper

NM_032447.5

p.E452*

c.1354G>T

1 paper

NM_032447.5

p.R413*

c.1237C>T

1 paper

NM_032447.5

p.C412R

c.1234T>C

1 paper

NM_032447.5

p.G461S

c.1381G>A