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

4 papers

NM_032447.5

p.P1958H

c.5873C>A

Surrounding Variants

1 paper

NM_032447.5

p.H1966D

c.5896C>G

1 paper

NM_032447.5

p.L1948L

c.5844C>T

1 paper

NM_032447.5

p.L1934L

c.5802C>T

1 paper

NM_032447.5

p.A1922delFs

c.5764delC

1 paper

NM_032447.5

p.L1904F

c.5710C>T

1 paper

NM_032447.5

p.F1900L

c.5700T>G

1 paper

NM_032447.5

p.F1900L

c.5700T>A

1 paper

NM_032447.5

p.F1900L

c.5698T>C

1 paper

NM_032447.5

p.C1898*

c.5694C>A

2 papers

NM_032447.5

p.N1869K

c.5607C>G

2 papers

NM_032447.5

p.N1869K

c.5607C>A

1 paper

NM_032447.5

p.I1865V

c.5593A>G