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

1–12 of 2029 variants

509 papers

NM_002016.2

p.R501*

c.1501C>T

254 papers

NM_002016.2

p.R2447*

c.7339C>T

194 papers

NM_002016.2

p.S3247*

c.9740C>A

191 papers

NM_002016.2

p.S3247*

c.9740C>G

135 papers

NM_002016.2

p.S1107delFs

c.3321delT

73 papers

NM_002016.2

p.S2554*

c.7661C>G

72 papers

NM_002016.2

p.S2554*

c.7661C>A

68 papers

NM_002016.2

p.G1234delFs

c.3702delC

58 papers

NM_002016.2

p.K4022*

c.12064A>T

55 papers

NM_002016.2

p.S3296*

c.9887C>A

54 papers

NM_002016.2

p.E2422*

c.7264G>T

54 papers

NM_002016.2

p.S3296*

c.9887C>G