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.I3191S

c.9572T>G

Surrounding Variants

1 paper

NM_002016.2

p.D3190N

c.9568G>A

1 paper

NM_002016.2

p.A3189S

c.9565G>T

3 papers

NM_002016.2

p.A3189P

c.9565G>C

1 paper

NM_002016.2

p.V3198G

c.9593T>G

2 papers

NM_002016.2

p.Q3199*

c.9595C>T

1 paper

NM_002016.2

p.R3181C

c.9541C>T

4 papers

NM_002016.2

p.S3180S

c.9540A>G

1 paper

NM_002016.2

p.E3203K

c.9607G>A

9 papers

NM_002016.2

p.V3179G

c.9536T>G

1 paper

NM_002016.2

p.E3203D

c.9609G>T

1 paper

NM_002016.2

p.E3203D

c.9609G>C

2 papers

NM_002016.2

p.R3207T

c.9620G>C