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.M1108L

c.3322A>C

Surrounding Variants

1 paper

NM_000138.5

p.M1108L

c.3322A>T

1 paper

NM_000138.5

p.M1107R

c.3320T>G

1 paper

NM_000138.5

p.K1109_N1110insG

c.3325_3329ins3

1 paper

NM_000138.5

p.K1109R

c.3326A>G

2 papers

NM_000138.5

p.M1106V

c.3316A>G

1 paper

NM_000138.5

p.F1105L

c.3315C>G

1 paper

NM_000138.5

p.F1105L

c.3315C>A

4 papers

NM_000138.5

p.C1111R

c.3331T>C

1 paper

NM_000138.5

p.F1105L

c.3313T>C

7 papers

NM_000138.5

p.C1111Y

c.3332G>A

1 paper

NM_000138.5

p.E1102_S1103insFs

c.3306_3309dup4

1 paper

NM_000138.5

p.M1112L

c.3334A>T