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.R48W

c.142C>T

Surrounding Variants

1 paper

NM_032447.5

p.R48Q

c.143G>A

1 paper

NM_032447.5

p.R46Q

c.137G>A

1 paper

NM_032447.5

p.R46W

c.136C>T

1 paper

NM_032447.5

p.A36_E38del3

c.106_113del9

1 paper

NM_032447.5

p.E38insFs

c.113_114insT

1 paper

NM_032447.5

p.G35R

c.103G>C

1 paper

NM_032447.5

p.G35R

c.103G>A

1 paper

NM_032447.5

p.W20delFs

c.60delC

1 paper

NM_032447.5

p.L17_L18insFs

c.51_52insG

1 paper

NM_032447.5

p.P12_L13del2

c.34_38del6

1 paper

NM_032447.5

p.P12_L13del1

c.36_38delAGG

3 papers

NM_032447.5

p.P12A

c.34C>G