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.C1306W

c.3918T>G

Surrounding Variants

1 paper

NM_032447.5

p.G1311C

c.3931G>T

3 papers

NM_032447.5

p.G1311A

c.3932G>C

1 paper

NM_032447.5

p.S1293G

c.3877A>G

1 paper

NM_032447.5

p.D1292G

c.3875A>G

1 paper

NM_032447.5

p.C1284G

c.3850T>G

3 papers

NM_032447.5

p.V1326I

c.3976G>A

1 paper

NM_032447.5

p.S1327Y

c.3980C>A

1 paper

NM_032447.5

p.L1339V

c.4015C>G

1 paper

NM_032447.5

p.R1346H

c.4037G>A

1 paper

NM_032447.5

p.G1352S

c.4054G>A

1 paper

NM_032447.5

p.G1376R

c.4126G>C

1 paper

NM_032447.5

p.G1376R

c.4126G>A