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.S3595P

c.10783T>C

Surrounding Variants

1 paper

NM_002016.2

p.S3594I

c.10781G>T

10 papers

NM_002016.2

p.E3593D

c.10779G>T

10 papers

NM_002016.2

p.E3593D

c.10779G>C

1 paper

NM_002016.2

p.E3593_Q3597del5

c.10777_10790del15

1 paper

NM_002016.2

p.A3592S

c.10774G>T

1 paper

NM_002016.2

p.T3600P

c.10798A>C

1 paper

NM_002016.2

p.H3588H

c.10764C>T

1 paper

NM_002016.2

p.H3601R

c.10802A>G

1 paper

NM_002016.2

p.H3602H

c.10806T>C

2 papers

NM_002016.2

p.G3587C

c.10759G>T

1 paper

NM_002016.2

p.A3603T

c.10807G>A

1 paper

NM_002016.2

p.E3604*

c.10810G>T