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

2 papers

NM_002016.2

p.G98A

c.293G>C

Surrounding Variants

1 paper

NM_002016.2

p.G98insFs

c.292_293insTT

1 paper

NM_002016.2

p.G98R

c.292G>A

1 paper

NM_002016.2

p.I96_S97insFs

c.288_289insC

1 paper

NM_002016.2

p.K100T

c.299A>C

1 paper

NM_002016.2

p.H101D

c.301C>G

1 paper

NM_002016.2

p.P95L

c.284C>T

1 paper

NM_002016.2

p.N93delFs

c.278delT

1 paper

NM_002016.2

p.N93I

c.278A>T

1 paper

NM_002016.2

p.E92E

c.276G>A

1 paper

NM_002016.2

p.R102_S105del0

c.306_314del9

1 paper

NM_002016.2

p.R90*

c.268A>T

1 paper

NM_002016.2

p.E87G

c.260A>G