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

20 papers

NM_002016.2

p.S3316*

c.9947C>G

Surrounding Variants

19 papers

NM_002016.2

p.S3316*

c.9947C>A

1 paper

NM_002016.2

p.P3319P

c.9957G>A

1 paper

NM_002016.2

p.G3321R

c.9961G>C

1 paper

NM_002016.2

p.G3321R

c.9961G>A

1 paper

NM_002016.2

p.Q3322*

c.9964C>T

4 papers

NM_002016.2

p.Q3322Q

c.9966A>G

1 paper

NM_002016.2

p.R3305H

c.9914G>A

1 paper

NM_002016.2

p.R3305C

c.9913C>T

1 paper

NM_002016.2

p.D3329H

c.9985G>C

1 paper

NM_002016.2

p.R3331G

c.9991A>G

1 paper

NM_002016.2

p.P3298A

c.9892C>G

1 paper

NM_002016.2

p.S3335C

c.10004C>G