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.R2013W

c.6037C>T

Surrounding Variants

1 paper

NM_032447.5

p.R2020H

c.6059G>A

1 paper

NM_032447.5

p.A2023delins

c.6069delinsC

1 paper

NM_032447.5

p.P2029L

c.6086C>T

1 paper

NM_032447.5

p.T2037S

c.6109A>T

1 paper

NM_032447.5

p.T2037S

c.6110C>G

1 paper

NM_032447.5

p.R2038H

c.6113G>A

1 paper

NM_032447.5

p.E2047K

c.6139G>A

1 paper

NM_032447.5

p.P2057L

c.6170C>T

1 paper

NM_032447.5

p.E2059E

c.6177G>A

2 papers

NM_032447.5

p.A2074E

c.6221C>A

1 paper

NM_032447.5

p.D2079delins

c.6237delinsCTCT

1 paper

NM_032447.5

p.G2093C

c.6277G>T