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.N137K

c.411T>A

Surrounding Variants

1 paper

NM_002016.2

p.N137K

c.411T>G

1 paper

NM_002016.2

p.G139E

c.416G>A

1 paper

NM_002016.2

p.G139G

c.417A>T

1 paper

NM_002016.2

p.R140*

c.418A>T

1 paper

NM_002016.2

p.R140S

c.420A>T

1 paper

NM_002016.2

p.R140S

c.420A>C

1 paper

NM_002016.2

p.K142*

c.424A>T

1 paper

NM_002016.2

p.K142R

c.425A>G

1 paper

NM_002016.2

p.N133D

c.397A>G

1 paper

NM_002016.2

p.S143fs

c.427_428fs

2 papers

NM_002016.2

p.N132S

c.395A>G

1 paper

NM_002016.2

p.S143delFs

c.428delC