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.R2561_N2562insFs

c.7683_7684ins4

Surrounding Variants

1 paper

NM_002016.2

p.R2561M

c.7682G>T

1 paper

NM_002016.2

p.W2563*

c.7688G>A

1 paper

NM_002016.2

p.W2563*

c.7689G>A

1 paper

NM_002016.2

p.N2562_W2563delFs

c.7685_7688del4

1 paper

NM_002016.2

p.R2558S

c.7674G>T

1 paper

NM_002016.2

p.R2558S

c.7674G>C

3 papers

NM_002016.2

p.S2565C

c.7694C>G

1 paper

NM_002016.2

p.F2567V

c.7699T>G

1 paper

NM_002016.2

p.G2556R

c.7666G>C

1 paper

NM_002016.2

p.G2556R

c.7666G>A

1 paper

NM_002016.2

p.S2568S

c.7704C>T

1 paper

NM_002016.2

p.S2554L

c.7661C>T