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

6 papers

NM_000138.5

p.N542S

c.1625A>G

Surrounding Variants

1 paper

NM_000138.5

p.C541*

c.1623C>A

1 paper

NM_000138.5

p.C541F

c.1622G>T

6 papers

NM_000138.5

p.C541Y

c.1622G>A

1 paper

NM_000138.5

p.N543N

c.1629T>C

2 papers

NM_000138.5

p.G544*

c.1630G>T

6 papers

NM_000138.5

p.G544R

c.1630G>C

5 papers

NM_000138.5

p.G544R

c.1630G>A

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.G544V

c.1631G>T

1 paper

NM_000138.5

p.G544A

c.1631G>C

1 paper

NM_000138.5

p.G544E

c.1631G>A