Varaico: Literature-Extracted Genetic Variants

FBN1

1,753 papers

RefSeq Summary

This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1...

Pfam Domains

Fibrillin_U_Naa 44–82UCSCFibrillin 1 unique N-terminal domain

EGF_FBN_1staa 89–110UCSCFibrillin, first EGF domain

TBaa 193–231UCSCTB domain

EGF_CAaa 246–286UCSCCalcium-binding EGF domain

EGF_CAaa 288–328UCSCCalcium-binding EGF domain

TBaa 343–389UCSCTB domain

Gene Aliases

HGNC Name

fibrillin 1

HGNC Previous Symbols

MFS1; WMS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000138.5

p.G538D

c.1613G>A

Surrounding Variants

1 paper

NM_000138.5

p.G538R

c.1612G>C

2 papers

NM_000138.5

p.R539W

c.1615C>T

1 paper

NM_000138.5

p.R539L

c.1616G>T

4 papers

NM_000138.5

p.R539Q

c.1616G>A

1 paper

NM_000138.5

p.R539fs

c.1615_1616fs

3 papers

NM_000138.5

p.N537H

c.1609A>C

1 paper

NM_000138.5

p.R539delFs

c.1617delC

3 papers

NM_000138.5

p.Q536*

c.1606C>T

1 paper

NM_000138.5

p.I540M

c.1620C>G

1 paper

NM_000138.5

p.I540I

c.1620C>A

1 paper

NM_000138.5

p.Q536K

c.1606C>A

1 paper

NM_000138.5

p.L535delFs

c.1605delT