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.A3750V

c.11249C>T

Surrounding Variants

1 paper

NM_002016.2

p.A3750A

c.11250G>A

1 paper

NM_002016.2

p.A3750T

c.11248G>A

3 papers

NM_002016.2

p.S3749*

c.11246C>G

3 papers

NM_002016.2

p.S3749*

c.11246C>A

1 paper

NM_002016.2

p.S3746C

c.11237C>G

1 paper

NM_002016.2

p.T3757A

c.11269A>G

5 papers

NM_002016.2

p.R3743*

c.11227C>T

1 paper

NM_002016.2

p.E3740K

c.11218G>A

1 paper

NM_002016.2

p.H3761P

c.11282A>C

1 paper

NM_002016.2

p.P3762T

c.11284C>A

10 papers

NM_002016.2

p.R3738H

c.11213G>A

1 paper

NM_002016.2

p.G3763W

c.11287G>T