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.H583N

c.1747C>A

Surrounding Variants

1 paper

NM_002016.2

p.H583R

c.1748A>G

9 papers

NM_002016.2

p.T581S

c.1742C>G

9 papers

NM_002016.2

p.T581S

c.1741A>T

1 paper

NM_002016.2

p.G585insFs

c.1754_1755insT

1 paper

NM_002016.2

p.G585E

c.1754G>A

1 paper

NM_002016.2

p.G585G

c.1755G>T

1 paper

NM_002016.2

p.H583_G585delFs

c.1747_1754del8

1 paper

NM_002016.2

p.G580R

c.1738G>C

1 paper

NM_002016.2

p.D579D

c.1737C>T

1 paper

NM_002016.2

p.D579G

c.1736A>G

1 paper

NM_002016.2

p.Q576R

c.1727A>G

2 papers

NM_002016.2

p.R572Q

c.1715G>A