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.Q1209*

c.3625C>T

Surrounding Variants

3 papers

NM_032447.5

p.V1206I

c.3616G>A

1 paper

NM_032447.5

p.G1218fs

c.3652_3653fs

1 paper

NM_032447.5

p.R1220fs

c.3658_3659fs

1 paper

NM_032447.5

p.C1221F

c.3662G>T

1 paper

NM_032447.5

p.C1221*

c.3663C>A

2 papers

NM_032447.5

p.N1131S

c.3392A>G

1 paper

NM_032447.5

p.N1131Y

c.3391A>T

1 paper

NM_032447.5

p.C1129Y

c.3386G>A

1 paper

NM_032447.5

p.G1127S

c.3379G>A

1 paper

NM_032447.5

p.C1117Y

c.3350G>A

1 paper

NM_032447.5

p.D1115G

c.3344A>G

1 paper

NM_032447.5

p.D1115H

c.3343G>C