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.R1474Q

c.4421G>A

Surrounding Variants

30 papers

NM_002016.2

p.R1474*

c.4420C>T

2 papers

NM_002016.2

p.H1470H

c.4410T>C

1 paper

NM_002016.2

p.R1469L

c.4406G>T

4 papers

NM_002016.2

p.R1469H

c.4406G>A

1 paper

NM_002016.2

p.R1469delFs

c.4405delG

1 paper

NM_002016.2

p.S1468F

c.4403C>T

11 papers

NM_002016.2

p.S1482Y

c.4445C>A

1 paper

NM_002016.2

p.Q1466*

c.4396C>T

1 paper

NM_002016.2

p.R1465delFs

c.4393delT

2 papers

NM_002016.2

p.G1464E

c.4391G>A

4 papers

NM_002016.2

p.D1484E

c.4452C>G

4 papers

NM_002016.2

p.D1484E

c.4452C>A