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.H2859Y

c.8575C>T

Surrounding Variants

4 papers

NM_002016.2

p.H2858H

c.8574C>T

1 paper

NM_002016.2

p.H2858Y

c.8572C>T

1 paper

NM_002016.2

p.R2857H

c.8570G>A

1 paper

NM_002016.2

p.A2861T

c.8581G>A

1 paper

NM_002016.2

p.S2856S

c.8568G>A

1 paper

NM_002016.2

p.S2856L

c.8567C>T

1 paper

NM_002016.2

p.G2855R

c.8563G>C

1 paper

NM_002016.2

p.G2855R

c.8563G>A

5 papers

NM_002016.2

p.T2863S

c.8587A>T

5 papers

NM_002016.2

p.T2863S

c.8588C>G

3 papers

NM_002016.2

p.H2864fs

c.8590_8591fs

2 papers

NM_002016.2

p.H2864Y

c.8590C>T