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.R1499*

c.4495C>T

Surrounding Variants

1 paper

NM_032447.5

p.G1500R

c.4498G>A

1 paper

NM_032447.5

p.R1488P

c.4463G>C

1 paper

NM_032447.5

p.G1511R

c.4531G>C

1 paper

NM_032447.5

p.G1511R

c.4531G>A

1 paper

NM_032447.5

p.R1516*

c.4546C>T

1 paper

NM_032447.5

p.C1519R

c.4555T>C

1 paper

NM_032447.5

p.G1458S

c.4372G>A

1 paper

NM_032447.5

p.E1448V

c.4343A>T

1 paper

NM_032447.5

p.P1547insFs

c.4641dupG

1 paper

NM_032447.5

p.R1556C

c.4666C>T

1 paper

NM_032447.5

p.R1556H

c.4667G>A

1 paper

NM_032447.5

p.R1556delFs

c.4666delG