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.Q3847delFs

c.11541delC

Surrounding Variants

1 paper

NM_002016.2

p.E3849K

c.11545G>A

1 paper

NM_002016.2

p.Q3847*

c.11539C>T

1 paper

NM_002016.2

p.G3846D

c.11537G>A

1 paper

NM_002016.2

p.A3851V

c.11552C>T

1 paper

NM_002016.2

p.Q3844E

c.11530C>G

1 paper

NM_002016.2

p.S3843*

c.11528C>G

1 paper

NM_002016.2

p.S3843*

c.11528C>A

4 papers

NM_002016.2

p.Q3859*

c.11575C>T

1 paper

NM_002016.2

p.H3830L

c.11489A>T

4 papers

NM_002016.2

p.R3829H

c.11486G>A

1 paper

NM_002016.2

p.G3827W

c.11479G>T

1 paper

NM_002016.2

p.E3874*

c.11620G>T