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

7 papers

NM_002016.2

p.I2867S

c.8600T>G

Surrounding Variants

1 paper

NM_002016.2

p.D2866V

c.8597A>T

4 papers

NM_002016.2

p.A2865fs

c.8593_8594fs

1 paper

NM_002016.2

p.A2865V

c.8594C>T

8 papers

NM_002016.2

p.A2865insFs

c.8593_8594insGG

4 papers

NM_002016.2

p.A2865fs

c.8593_8594fs

4 papers

NM_002016.2

p.H2864fs

c.8590_8591fs

2 papers

NM_002016.2

p.H2864Q

c.8592T>G

2 papers

NM_002016.2

p.H2864Q

c.8592T>A

9 papers

NM_002016.2

p.H2864delFs

c.8590_8591delTG

2 papers

NM_002016.2

p.H2864R

c.8591A>G

3 papers

NM_002016.2

p.H2864fs

c.8590_8591fs

2 papers

NM_002016.2

p.H2864Y

c.8590C>T