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

3 papers

NM_002016.2

p.R1623W

c.4867C>T

Surrounding Variants

1 paper

NM_002016.2

p.Y1619F

c.4856A>T

1 paper

NM_002016.2

p.Y1619H

c.4855T>C

1 paper

NM_002016.2

p.A1614del1

c.4840_4841delAGC

1 paper

NM_002016.2

p.N1632fs

c.4894_4895fs

2 papers

NM_002016.2

p.N1632delFs

c.4895delT

1 paper

NM_002016.2

p.R1634T

c.4901G>C

1 paper

NM_002016.2

p.R1610Q

c.4829G>A

1 paper

NM_002016.2

p.R1610W

c.4828C>T

1 paper

NM_002016.2

p.Q1637delFs

c.4909delG

1 paper

NM_002016.2

p.S1607_E1608delFs

c.4821_4822delCA

1 paper

NM_002016.2

p.D1639N

c.4915G>A

1 paper

NM_002016.2

p.D1606delFs

c.4816delC