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.E3429*

c.10285G>T

Surrounding Variants

1 paper

NM_002016.2

p.A3426V

c.10277C>T

1 paper

NM_002016.2

p.R3423R

c.10269G>A

1 paper

NM_002016.2

p.R3435C

c.10303C>T

12 papers

NM_002016.2

p.G3436A

c.10307G>C

1 paper

NM_002016.2

p.S3421N

c.10262G>A

3 papers

NM_002016.2

p.R3419Q

c.10256G>A

11 papers

NM_002016.2

p.R3419*

c.10255C>T

1 paper

NM_002016.2

p.A3418delFs

c.10252delC

2 papers

NM_002016.2

p.S3441R

c.10321A>C

2 papers

NM_002016.2

p.S3441R

c.10323C>G

2 papers

NM_002016.2

p.S3441R

c.10323C>A

1 paper

NM_002016.2

p.R3442*

c.10324A>T