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.G315E

c.944G>A

Surrounding Variants

1 paper

NM_002016.2

p.S316L

c.947C>T

1 paper

NM_002016.2

p.R312S

c.936G>C

4 papers

NM_002016.2

p.R312K

c.935G>A

1 paper

NM_002016.2

p.S318insFs

c.952dupT

1 paper

NM_002016.2

p.R312fs

c.934_935fs

1 paper

NM_002016.2

p.R312W

c.934A>T

1 paper

NM_002016.2

p.H322N

c.964C>A

5 papers

NM_002016.2

p.G323*

c.967G>T

1 paper

NM_002016.2

p.G323delFs

c.967delC

1 paper

NM_002016.2

p.S324Y

c.971C>A

1 paper

NM_002016.2

p.S324delFs

c.970_971delGA

2 papers

NM_002016.2

p.A325A

c.975G>A