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

8 papers

NM_002016.2

p.E2297D

c.6891G>T

Surrounding Variants

8 papers

NM_002016.2

p.E2297D

c.6891G>C

1 paper

NM_002016.2

p.Q2301*

c.6901C>T

1 paper

NM_002016.2

p.H2294L

c.6881A>T

1 paper

NM_002016.2

p.G2303C

c.6907G>T

1 paper

NM_002016.2

p.R2289_A2290delFs

c.6867_6868delCT

1 paper

NM_002016.2

p.A2290T

c.6868G>A

1 paper

NM_002016.2

p.A2290fs

c.6868_6869fs

1 paper

NM_002016.2

p.R2289fs

c.6865_6866fs

1 paper

NM_002016.2

p.E2308G

c.6923A>G

27 papers

NM_002016.2

p.P2282_H2285del4

c.6844_6854del12

1 paper

NM_002016.2

p.H2286Y

c.6856C>T

1 paper

NM_002016.2

p.S2311C

c.6932C>G