Varaico: Literature-Extracted Genetic Variants

FLG

1,270 papers

RefSeq Summary

The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein prec...

Pfam Domains

S_100aa 4–48UCSCS-100/ICaBP type calcium binding domain

Filaggrinaa 257–306UCSCFilaggrin

Filaggrinaa 373–428UCSCFilaggrin

Filaggrinaa 574–630UCSCFilaggrin

Filaggrinaa 697–753UCSCFilaggrin

Filaggrinaa 899–955UCSCFilaggrin

Gene Aliases

HGNC Name

filaggrin

HGNC Alias Symbols

FLG1; FLG-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002016.2

p.T289K

c.866C>A

Surrounding Variants

1 paper

NM_002016.2

p.R288delFs

c.862_863delCT

1 paper

NM_002016.2

p.R290insFs

c.869_870insT

1 paper

NM_002016.2

p.R288_T289insC

c.862_866ins3

1 paper

NM_002016.2

p.R292_R293insTT

c.874_878ins6

1 paper

NM_002016.2

p.R292H

c.875G>A

1 paper

NM_002016.2

p.E286delFs

c.856delC

1 paper

NM_002016.2

p.R293R

c.877A>C

1 paper

NM_002016.2

p.R293R

c.879G>A

2 papers

NM_002016.2

p.Q285*

c.853C>T

1 paper

NM_002016.2

p.Q285insFs

c.853_854insA

1 paper

NM_002016.2

p.P283S

c.847C>T

1 paper

NM_002016.2

p.V297I

c.889G>A