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

3 papers

NM_032447.5

p.C1039G

c.3115T>G

Surrounding Variants

1 paper

NM_032447.5

p.R1033R

c.3099C>T

1 paper

NM_032447.5

p.C1044*

c.3132T>A

2 papers

NM_032447.5

p.R1033L

c.3098G>T

1 paper

NM_032447.5

p.C1032F

c.3095G>T

1 paper

NM_032447.5

p.C1032Y

c.3095G>A

1 paper

NM_032447.5

p.P1048S

c.3142C>T

1 paper

NM_032447.5

p.E1054E

c.3162G>A

1 paper

NM_032447.5

p.S1061C

c.3181A>T

2 papers

NM_032447.5

p.A1018T

c.3052G>A

1 paper

NM_032447.5

p.C1013Y

c.3038G>A

3 papers

NM_032447.5

p.R1083W

c.3247C>T

1 paper

NM_032447.5

p.G1084E

c.3251G>A