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.E2163*

c.6487G>T

Surrounding Variants

1 paper

NM_000138.5

p.N2162S

c.6485A>G

2 papers

NM_000138.5

p.C2164S

c.6490T>A

2 papers

NM_000138.5

p.C2164S

c.6491G>C

2 papers

NM_000138.5

p.C2164Y

c.6491G>A

2 papers

NM_000138.5

p.V2165L

c.6493G>T

2 papers

NM_000138.5

p.V2165L

c.6493G>C

1 paper

NM_000138.5

p.A2160P

c.6478G>C

7 papers

NM_000138.5

p.D2166N

c.6496G>A

1 paper

NM_000138.5

p.D2166insFs

c.6496_6497ins11

5 papers

NM_000138.5

p.D2166Splc

c.6496+1G>A

1 paper

NM_000138.5

p.V2165del1

c.6493_6494delTAC

1 paper

NM_000138.5

p.D2166Splc

c.6496+2T>C