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.S608S

c.1824A>G

Surrounding Variants

3 papers

NM_002016.2

p.S609*

c.1826C>A

1 paper

NM_002016.2

p.S609delFs

c.1826delG

2 papers

NM_002016.2

p.G610R

c.1828G>C

2 papers

NM_002016.2

p.G610R

c.1828G>A

1 paper

NM_002016.2

p.G610E

c.1829G>A

2 papers

NM_002016.2

p.Q607E

c.1819C>G

1 paper

NM_002016.2

p.Q607K

c.1819C>A

1 paper

NM_002016.2

p.G610delFs

c.1830delC

1 paper

NM_002016.2

p.P611R

c.1832C>G

2 papers

NM_002016.2

p.Q605H

c.1815G>T

2 papers

NM_002016.2

p.Q605H

c.1815G>C

1 paper

NM_002016.2

p.R612fs

c.1834_1835fs