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.S597R

c.1789A>C

Surrounding Variants

2 papers

NM_002016.2

p.S597S

c.1791C>T

2 papers

NM_002016.2

p.S597R

c.1791C>G

1 paper

NM_002016.2

p.S597R

c.1791C>A

1 paper

NM_002016.2

p.A595D

c.1784C>A

6 papers

NM_002016.2

p.V603M

c.1807G>A

1 paper

NM_002016.2

p.V603delFs

c.1807delC

1 paper

NM_002016.2

p.G604D

c.1811G>A

2 papers

NM_002016.2

p.Q605H

c.1815G>T

2 papers

NM_002016.2

p.Q605H

c.1815G>C

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.G585G

c.1755G>T