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.Q3677fs

c.11029_11030fs

Surrounding Variants

2 papers

NM_002016.2

p.Q3677delFs

c.11029_11030delTG

1 paper

NM_002016.2

p.V3679delFs

c.11035delC

1 paper

NM_002016.2

p.E3672_D3675del4

c.11014_11024del12

1 paper

NM_002016.2

p.V3679fs

c.11035_11036fs

1 paper

NM_002016.2

p.S3674*

c.11021C>G

1 paper

NM_002016.2

p.A3681A

c.11043C>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.G3683R

c.11047G>C

1 paper

NM_002016.2

p.G3683R

c.11047G>A

1 paper

NM_002016.2

p.E3672*

c.11014G>T

2 papers

NM_002016.2

p.Q3684*

c.11050C>T