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

2 papers

NM_002016.2

p.Q3684*

c.11050C>T

Surrounding Variants

1 paper

NM_002016.2

p.Q3684K

c.11050C>A

1 paper

NM_002016.2

p.Q3684Q

c.11052G>A

1 paper

NM_002016.2

p.G3683R

c.11047G>C

1 paper

NM_002016.2

p.G3683R

c.11047G>A

2 papers

NM_002016.2

p.H3682Q

c.11046C>G

2 papers

NM_002016.2

p.H3682Q

c.11046C>A

1 paper

NM_002016.2

p.A3681A

c.11043C>A

1 paper

NM_002016.2

p.P3687P

c.11061C>T

1 paper

NM_002016.2

p.V3679fs

c.11035_11036fs

1 paper

NM_002016.2

p.V3679delFs

c.11035delC

1 paper

NM_002016.2

p.Q3689*

c.11065C>T

1 paper

NM_002016.2

p.Q3677fs

c.11029_11030fs