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.K933Q

c.2797A>C

Surrounding Variants

2 papers

NM_032447.5

p.R935Q

c.2804G>A

3 papers

NM_032447.5

p.V938I

c.2812G>A

1 paper

NM_032447.5

p.C926R

c.2776T>C

1 paper

NM_032447.5

p.R913G

c.2737A>G

1 paper

NM_032447.5

p.V912G

c.2735T>G

1 paper

NM_032447.5

p.D911V

c.2732A>T

1 paper

NM_032447.5

p.P957A

c.2869C>G

1 paper

NM_032447.5

p.F962F

c.2886C>T

1 paper

NM_032447.5

p.R968Q

c.2903G>A

1 paper

NM_032447.5

p.R981G

c.2941C>G

1 paper

NM_032447.5

p.R981Q

c.2942G>A

1 paper

NM_032447.5

p.D986Splc

c.2956+7T>C