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.T247S

c.740C>G

Surrounding Variants

2 papers

NM_002016.2

p.S249insFs

c.745dupA

1 paper

NM_002016.2

p.D245A

c.734A>C

1 paper

NM_002016.2

p.S249fs

c.745_746fs

1 paper

NM_002016.2

p.Y244insFs

c.730_731insG

1 paper

NM_002016.2

p.A243V

c.728C>T

1 paper

NM_002016.2

p.A243delFs

c.727delC

1 paper

NM_002016.2

p.N254delFs

c.761_762delGT

1 paper

NM_002016.2

p.N254_I256delFs

c.762_766del5

1 paper

NM_002016.2

p.T238_I239insG

c.712_716ins3

1 paper

NM_002016.2

p.Y257delFs

c.770delT

1 paper

NM_002016.2

p.R259G

c.775A>G

1 paper

NM_002016.2

p.T235I

c.704C>T