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.G1717A

c.5150G>C

Surrounding Variants

1 paper

NM_032447.5

p.Y1699C

c.5096A>G

1 paper

NM_032447.5

p.N1663K

c.4989T>G

1 paper

NM_032447.5

p.N1663K

c.4989T>A

1 paper

NM_032447.5

p.C1661R

c.4981T>C

1 paper

NM_032447.5

p.R1655W

c.4963C>T

1 paper

NM_032447.5

p.C1616Y

c.4847G>A

4 papers

NM_032447.5

p.G1614S

c.4840G>A

1 paper

NM_032447.5

p.E1608G

c.4823A>G

1 paper

NM_032447.5

p.G1726V

c.5177G>T

1 paper

NM_032447.5

p.N1734K

c.5202T>G

1 paper

NM_032447.5

p.N1734K

c.5202T>A

1 paper

NM_032447.5

p.R1745C

c.5233C>T