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

135 papers

NM_002016.2

p.S1107delFs

c.3321delT

Surrounding Variants

2 papers

NM_002016.2

p.S1107fs

c.3319_3320fs

1 paper

NM_002016.2

p.S1107delFs

c.3320delG

1 paper

NM_002016.2

p.G1109*

c.3325G>T

13 papers

NM_002016.2

p.G1109fs

c.3325_3326fs

1 paper

NM_002016.2

p.W1106C

c.3318G>T

1 paper

NM_002016.2

p.W1106C

c.3318G>C

2 papers

NM_002016.2

p.W1106*

c.3318G>A

2 papers

NM_002016.2

p.W1106*

c.3317G>A

4 papers

NM_002016.2

p.G1109fs

c.3325_3326fs

1 paper

NM_002016.2

p.D1105fs

c.3313_3314fs

1 paper

NM_002016.2

p.R1113L

c.3338G>T

2 papers

NM_002016.2

p.R1113H

c.3338G>A