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

2 papers

NM_000138.5

p.N1021D

c.3061A>G

Surrounding Variants

2 papers

NM_000138.5

p.G1022*

c.3064G>T

21 papers

NM_000138.5

p.T1020A

c.3058A>G

1 paper

NM_000138.5

p.I1019delFs

c.3057delA

1 paper

NM_000138.5

p.G1022E

c.3065G>A

19 papers

NM_000138.5

p.K1023N

c.3069G>T

20 papers

NM_000138.5

p.K1023N

c.3069G>C

1 paper

NM_000138.5

p.K1023K

c.3069G>A

1 paper

NM_000138.5

p.E1018G

c.3053A>G

1 paper

NM_000138.5

p.P1024S

c.3070C>T

2 papers

NM_000138.5

p.F1025insFs

c.3073_3074insA

1 paper

NM_000138.5

p.K1023_P1024del0

c.3067_3072del6

2 papers

NM_000138.5

p.F1025fs

c.3073_3074fs