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

3 papers

NM_002016.2

p.S2470R

c.7410T>G

Surrounding Variants

3 papers

NM_002016.2

p.S2470R

c.7410T>A

1 paper

NM_002016.2

p.G2471R

c.7411G>C

1 paper

NM_002016.2

p.G2471R

c.7411G>A

3 papers

NM_002016.2

p.S2470R

c.7408A>C

1 paper

NM_002016.2

p.G2472R

c.7414G>C

1 paper

NM_002016.2

p.G2472R

c.7414G>A

1 paper

NM_002016.2

p.Q2474H

c.7422G>T

1 paper

NM_002016.2

p.Q2474H

c.7422G>C

3 papers

NM_002016.2

p.P2466P

c.7398G>A

1 paper

NM_002016.2

p.P2466L

c.7397C>T

1 paper

NM_002016.2

p.P2466Q

c.7397C>A

1 paper

NM_002016.2

p.G2475E

c.7424G>A