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.G2711R

c.8131G>A

Surrounding Variants

1 paper

NM_002016.2

p.G2711R

c.8131G>C

2 papers

NM_002016.2

p.S2715P

c.8143T>C

17 papers

NM_002016.2

p.S2706*

c.8117C>G

16 papers

NM_002016.2

p.S2706*

c.8117C>A

1 paper

NM_002016.2

p.Q2718R

c.8153A>G

1 paper

NM_002016.2

p.S2719delFs

c.8157delG

1 paper

NM_002016.2

p.E2722*

c.8164G>T

1 paper

NM_002016.2

p.A2724T

c.8170G>A

1 paper

NM_002016.2

p.E2696delFs

c.8088delC

1 paper

NM_002016.2

p.N2695K

c.8085T>G

1 paper

NM_002016.2

p.N2695K

c.8085T>A

1 paper

NM_002016.2

p.R2727W

c.8179C>T