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

4 papers

NM_032447.5

p.E2610D

c.7830G>T

Surrounding Variants

4 papers

NM_032447.5

p.E2610D

c.7830G>C

1 paper

NM_032447.5

p.D2612Y

c.7834G>T

1 paper

NM_032447.5

p.G2616R

c.7846G>C

1 paper

NM_032447.5

p.G2616R

c.7846G>A

1 paper

NM_032447.5

p.D2600H

c.7798G>C

1 paper

NM_032447.5

p.C2621W

c.7863T>G

1 paper

NM_032447.5

p.V2594I

c.7780G>A

1 paper

NM_032447.5

p.R2642Q

c.7925G>A

1 paper

NM_032447.5

p.S2575*

c.7724C>A

1 paper

NM_032447.5

p.E2571G

c.7712A>G

1 paper

NM_032447.5

p.D2568E

c.7704T>G

1 paper

NM_032447.5

p.D2568E

c.7704T>A