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.S324delFs

c.970_971delGA

Surrounding Variants

2 papers

NM_002016.2

p.A325A

c.975G>A

1 paper

NM_002016.2

p.S324Y

c.971C>A

2 papers

NM_002016.2

p.W326*

c.977G>A

1 paper

NM_002016.2

p.G323delFs

c.967delC

2 papers

NM_002016.2

p.W326*

c.978G>A

5 papers

NM_002016.2

p.G323*

c.967G>T

1 paper

NM_002016.2

p.E327Q

c.979G>C

1 paper

NM_002016.2

p.H322N

c.964C>A

1 paper

NM_002016.2

p.S329L

c.986C>T

1 paper

NM_002016.2

p.S329*

c.986C>G

1 paper

NM_002016.2

p.S318insFs

c.952dupT

13 papers

NM_002016.2

p.G332V

c.995G>T