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.S923F

c.2768C>T

Surrounding Variants

6 papers

NM_002016.2

p.S923insFs

c.2767_2768insT

1 paper

NM_002016.2

p.S923S

c.2769T>C

2 papers

NM_002016.2

p.I922S

c.2765T>G

1 paper

NM_002016.2

p.R924T

c.2771G>C

2 papers

NM_002016.2

p.A920fs

c.2758_2759fs

5 papers

NM_002016.2

p.A920insFs

c.2758_2759insGG

3 papers

NM_002016.2

p.A920fs

c.2758_2759fs

2 papers

NM_002016.2

p.H919fs

c.2755_2756fs

2 papers

NM_002016.2

p.H919Q

c.2757T>G

2 papers

NM_002016.2

p.H919Q

c.2757T>A

4 papers

NM_002016.2

p.H919delFs

c.2755_2756delTG

1 paper

NM_002016.2

p.Q927*

c.2779C>T