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.G1084E

c.3251G>A

Surrounding Variants

3 papers

NM_032447.5

p.R1083W

c.3247C>T

1 paper

NM_032447.5

p.T1090_D1091ins0

c.3269_3271dupCGG

1 paper

NM_032447.5

p.G1101E

c.3302G>A

1 paper

NM_032447.5

p.T1105M

c.3314C>T

1 paper

NM_032447.5

p.D1113V

c.3338A>T

1 paper

NM_032447.5

p.D1113G

c.3338A>G

1 paper

NM_032447.5

p.D1115H

c.3343G>C

1 paper

NM_032447.5

p.D1115G

c.3344A>G

1 paper

NM_032447.5

p.C1117Y

c.3350G>A

1 paper

NM_032447.5

p.G1127S

c.3379G>A

1 paper

NM_032447.5

p.C1129Y

c.3386G>A

1 paper

NM_032447.5

p.N1131Y

c.3391A>T