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.N431K

c.1293C>A

Surrounding Variants

1 paper

NM_002016.2

p.N431K

c.1293C>G

1 paper

NM_002016.2

p.D433H

c.1297G>C

1 paper

NM_002016.2

p.D433E

c.1299C>G

2 papers

NM_002016.2

p.D433fs

c.1297_1298fs

1 paper

NM_002016.2

p.D433E

c.1299C>A

3 papers

NM_002016.2

p.D433delFs

c.1297_1298delTC

1 paper

NM_002016.2

p.T434K

c.1301C>A

1 paper

NM_002016.2

p.Q435H

c.1305A>T

1 paper

NM_002016.2

p.Q435H

c.1305A>C

1 paper

NM_002016.2

p.G427*

c.1279G>T

1 paper

NM_002016.2

p.S436delins

c.1307_1308delinsGT

1 paper

NM_002016.2

p.S438L

c.1313C>T