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

1–12 of 342 variants

4 papers

NM_032447.5

p.P329L

c.986C>T

4 papers

NM_032447.5

p.G1614S

c.4840G>A

4 papers

NM_032447.5

p.P1958H

c.5873C>A

4 papers

NM_032447.5

p.R2013W

c.6037C>T

4 papers

NM_032447.5

p.E2610D

c.7830G>T

4 papers

NM_032447.5

p.E2610D

c.7830G>C

3 papers

NM_032447.5

p.P12A

c.34C>G

3 papers

NM_032447.5

p.L308V

c.922C>G

3 papers

NM_032447.5

p.V437V

c.1311G>A

3 papers

NM_032447.5

p.D868N

c.2602G>A

3 papers

NM_032447.5

p.V938I

c.2812G>A

3 papers

NM_032447.5

p.C1039G

c.3115T>G