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.P329L

c.986C>T

Surrounding Variants

1 paper

NM_032447.5

p.P335S

c.1003C>T

1 paper

NM_032447.5

p.N340Y

c.1018A>T

1 paper

NM_032447.5

p.R314H

c.941G>A

1 paper

NM_032447.5

p.G310D

c.929G>A

3 papers

NM_032447.5

p.L308V

c.922C>G

1 paper

NM_032447.5

p.G301R

c.901G>C

1 paper

NM_032447.5

p.G301R

c.901G>A

1 paper

NM_032447.5

p.C346C

c.1038C>T

1 paper

NM_032447.5

p.A347A

c.1041C>G

1 paper

NM_032447.5

p.R349W

c.1045C>T

1 paper

NM_032447.5

p.G355D

c.1064G>A

1 paper

NM_032447.5

p.R379*

c.1135C>T