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.S3876fs

c.11626_11627fs

Surrounding Variants

1 paper

NM_002016.2

p.S3876_E3877delFs

c.11628_11629delCA

4 papers

NM_002016.2

p.R3879*

c.11635C>T

1 paper

NM_002016.2

p.E3874*

c.11620G>T

1 paper

NM_002016.2

p.R3892W

c.11674C>T

1 paper

NM_002016.2

p.R3892Q

c.11675G>A

1 paper

NM_002016.2

p.E3893G

c.11678A>G

4 papers

NM_002016.2

p.Q3859*

c.11575C>T

1 paper

NM_002016.2

p.G3898S

c.11692G>A

1 paper

NM_002016.2

p.A3851V

c.11552C>T

1 paper

NM_002016.2

p.P3902H

c.11705C>A

1 paper

NM_002016.2

p.G3903*

c.11707G>T

1 paper

NM_002016.2

p.G3903R

c.11707G>C