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.E1073fs

c.3217_3218fs

Surrounding Variants

15 papers

NM_000138.5

p.E1073D

c.3219A>T

1 paper

NM_000138.5

p.E1073E

c.3219A>G

12 papers

NM_000138.5

p.E1073D

c.3219A>C

19 papers

NM_000138.5

p.C1074R

c.3220T>C

1 paper

NM_000138.5

p.C1074S

c.3220T>A

1 paper

NM_000138.5

p.E1073G

c.3218A>G

1 paper

NM_000138.5

p.E1073delFs

c.3217delC

2 papers

NM_000138.5

p.E1073*

c.3217G>T

1 paper

NM_000138.5

p.C1074S

c.3221G>C

47 papers

NM_000138.5

p.E1073K

c.3217G>A

9 papers

NM_000138.5

p.C1074Y

c.3221G>A

2 papers

NM_000138.5

p.R1075C

c.3223C>T