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.T1488N

c.4463C>A

Surrounding Variants

1 paper

NM_002016.2

p.R1490H

c.4469G>A

2 papers

NM_002016.2

p.G1485S

c.4453G>A

4 papers

NM_002016.2

p.D1484E

c.4452C>G

4 papers

NM_002016.2

p.D1484E

c.4452C>A

1 paper

NM_002016.2

p.P1493delFs

c.4478delG

2 papers

NM_002016.2

p.G1494W

c.4480G>T

11 papers

NM_002016.2

p.S1482Y

c.4445C>A

1 paper

NM_002016.2

p.G1502E

c.4505G>A

1 paper

NM_002016.2

p.R1474Q

c.4421G>A

30 papers

NM_002016.2

p.R1474*

c.4420C>T

1 paper

NM_002016.2

p.S1503Y

c.4508C>A

1 paper

NM_002016.2

p.Y1504H

c.4510T>C