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.T874A

c.2620A>G

Surrounding Variants

1 paper

NM_002016.2

p.S876P

c.2626T>C

1 paper

NM_002016.2

p.H871P

c.2612A>C

1 paper

NM_002016.2

p.S869_H870insT

c.2605_2609ins3

1 paper

NM_002016.2

p.R879M

c.2636G>T

1 paper

NM_002016.2

p.D862_R863del2

c.2584_2588del6

1 paper

NM_002016.2

p.R884S

c.2650C>A

1 paper

NM_002016.2

p.R863S

c.2589G>T

1 paper

NM_002016.2

p.R863S

c.2589G>C

1 paper

NM_002016.2

p.V861delFs

c.2581delC

2 papers

NM_002016.2

p.S860W

c.2579C>G

1 paper

NM_002016.2

p.S887S

c.2661A>C

2 papers

NM_002016.2

p.Q859K

c.2575C>A