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.F3991L

c.11973T>A

Surrounding Variants

1 paper

NM_002016.2

p.F3991L

c.11973T>G

1 paper

NM_002016.2

p.F3991L

c.11971T>C

1 paper

NM_002016.2

p.G3987S

c.11959G>A

1 paper

NM_002016.2

p.D3985G

c.11954A>G

1 paper

NM_002016.2

p.Y3984Y

c.11952T>C

1 paper

NM_002016.2

p.S3981G

c.11941A>G

1 paper

NM_002016.2

p.V4006V

c.12018T>C

1 paper

NM_002016.2

p.K4009E

c.12025A>G

2 papers

NM_002016.2

p.S3970L

c.11909C>T

1 paper

NM_002016.2

p.Q3969K

c.11905C>A

1 paper

NM_002016.2

p.G3968A

c.11903G>C

1 paper

NM_002016.2

p.K4016T

c.12047A>C