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.Y1119*

c.3357C>G

Surrounding Variants

1 paper

NM_002016.2

p.Y1119*

c.3357C>A

1 paper

NM_002016.2

p.Q1120delFs

c.3358delG

1 paper

NM_002016.2

p.G1115insFs

c.3343_3344insG

1 paper

NM_002016.2

p.G1115R

c.3343G>C

1 paper

NM_002016.2

p.G1115R

c.3343G>A

1 paper

NM_002016.2

p.R1113L

c.3338G>T

2 papers

NM_002016.2

p.R1113H

c.3338G>A

1 paper

NM_002016.2

p.E1128fs

c.3382_3383fs

1 paper

NM_002016.2

p.E1128V

c.3383A>T

2 papers

NM_002016.2

p.S1127_S1129delFs

c.3381_3385del5

4 papers

NM_002016.2

p.S1129S

c.3387T>C

4 papers

NM_002016.2

p.G1109fs

c.3325_3326fs