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.T2435N

c.7304C>A

Surrounding Variants

1 paper

NM_002016.2

p.S2434I

c.7301G>T

1 paper

NM_002016.2

p.G2437*

c.7309G>T

2 papers

NM_002016.2

p.G2437R

c.7309G>C

2 papers

NM_002016.2

p.G2437R

c.7309G>A

1 paper

NM_002016.2

p.G2437E

c.7310G>A

1 paper

NM_002016.2

p.G2432R

c.7294G>C

1 paper

NM_002016.2

p.G2432R

c.7294G>A

1 paper

NM_002016.2

p.G2440E

c.7319G>A

1 paper

NM_002016.2

p.R2430W

c.7288C>T

1 paper

NM_002016.2

p.A2427T

c.7279G>A

15 papers

NM_002016.2

p.K2444E

c.7330A>G

1 paper

NM_002016.2

p.Q2445delFs

c.7333delG