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

39 papers

NM_002016.2

p.P478S

c.1432C>T

Surrounding Variants

1 paper

NM_002016.2

p.D479E

c.1437C>G

1 paper

NM_002016.2

p.D479E

c.1437C>A

1 paper

NM_002016.2

p.E476V

c.1427A>T

1 paper

NM_002016.2

p.A481S

c.1441G>T

1 paper

NM_002016.2

p.A481T

c.1441G>A

1 paper

NM_002016.2

p.A481A

c.1443C>T

1 paper

NM_002016.2

p.S473T

c.1418G>C

1 paper

NM_002016.2

p.V472A

c.1415T>C

3 papers

NM_002016.2

p.R484W

c.1450C>T

1 paper

NM_002016.2

p.T485T

c.1455C>T

1 paper

NM_002016.2

p.T487delFs

c.1459delT

3 papers

NM_002016.2

p.S468F

c.1403C>T