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

38 papers

NM_000138.5

p.N2144S

c.6431A>G

Surrounding Variants

1 paper

NM_000138.5

p.N2144delFs

c.6431delT

1 paper

NM_000138.5

p.N2144fs

c.6430_6431fs

2 papers

NM_000138.5

p.N2144D

c.6430A>G

1 paper

NM_000138.5

p.N2144H

c.6430A>C

1 paper

NM_000138.5

p.C2142_I2143del2

c.6424_6428del6

2 papers

NM_000138.5

p.T2145P

c.6433A>C

1 paper

NM_000138.5

p.I2143F

c.6427A>T

1 paper

NM_000138.5

p.D2146N

c.6436G>A

1 paper

NM_000138.5

p.C2142delFs

c.6425delC

7 papers

NM_000138.5

p.C2142Y

c.6425G>A

2 papers

NM_000138.5

p.C2142R

c.6424T>C

1 paper

NM_000138.5

p.G2147D

c.6440G>A