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.R130fs

c.388_389fs

Surrounding Variants

1 paper

NM_002016.2

p.R130*

c.388A>T

1 paper

NM_002016.2

p.E129_R130insFs

c.387_388insC

1 paper

NM_002016.2

p.R130fs

c.388_389fs

2 papers

NM_002016.2

p.R130_R131delFs

c.388_391del4

2 papers

NM_002016.2

p.N132S

c.395A>G

1 paper

NM_002016.2

p.N133D

c.397A>G

2 papers

NM_002016.2

p.S126*

c.377C>G

2 papers

NM_002016.2

p.S126*

c.377C>A

1 paper

NM_002016.2

p.P125R

c.374C>G

1 paper

NM_002016.2

p.N137K

c.411T>G

1 paper

NM_002016.2

p.N137K

c.411T>A

1 paper

NM_002016.2

p.N121_R122insFs

c.363_364insAA