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

2 papers

NM_002016.2

p.S1977*

c.5930C>G

Surrounding Variants

2 papers

NM_002016.2

p.S1977*

c.5930C>A

1 paper

NM_002016.2

p.R1980C

c.5938C>T

1 paper

NM_002016.2

p.R1980S

c.5938C>A

1 paper

NM_002016.2

p.R1980H

c.5939G>A

1 paper

NM_002016.2

p.T1982fs

c.5944_5945fs

1 paper

NM_002016.2

p.T1982delFs

c.5945_5946delTG

1 paper

NM_002016.2

p.S1984F

c.5951C>T

1 paper

NM_002016.2

p.H1969L

c.5906A>T

3 papers

NM_002016.2

p.R1987H

c.5960G>A

2 papers

NM_002016.2

p.G1966S

c.5896G>A

1 paper

NM_002016.2

p.E1962fs

c.5884_5885fs

1 paper

NM_002016.2

p.E1962K

c.5884G>A