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.D62V

c.185A>T

Surrounding Variants

1 paper

NM_002016.2

p.H60_L61insAGC

c.178_182ins9

1 paper

NM_002016.2

p.D59E

c.177T>A

1 paper

NM_002016.2

p.N66delFs

c.198delG

1 paper

NM_002016.2

p.D55G

c.164A>G

1 paper

NM_002016.2

p.D70Y

c.208G>T

1 paper

NM_002016.2

p.D70N

c.208G>A

1 paper

NM_002016.2

p.D70insFs

c.208dupG

1 paper

NM_002016.2

p.F71L

c.213C>A

1 paper

NM_002016.2

p.P51Q

c.152C>A

2 papers

NM_002016.2

p.D50G

c.149A>G

1 paper

NM_002016.2

p.D50N

c.148G>A

1 paper

NM_002016.2

p.L75fs

c.223_224fs