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.I971V

c.2911A>G

Surrounding Variants

1 paper

NM_000138.5

p.I971fs

c.2911_2912fs

1 paper

NM_000138.5

p.P970L

c.2909C>T

1 paper

NM_000138.5

p.P970S

c.2908C>T

1 paper

NM_000138.5

p.A972V

c.2915C>T

1 paper

NM_000138.5

p.T968S

c.2903C>G

17 papers

NM_000138.5

p.R974C

c.2920C>T

1 paper

NM_000138.5

p.R974fs

c.2920_2921fs

1 paper

NM_000138.5

p.E965_G973del9

c.2893_2918del27

1 paper

NM_000138.5

p.T968S

c.2902A>T

1 paper

NM_000138.5

p.R974L

c.2921G>T

1 paper

NM_000138.5

p.R974H

c.2921G>A

1 paper

NM_000138.5

p.C967C

c.2901C>T