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.T814_G815insFs

c.2442_2445dup4

Surrounding Variants

1 paper

NM_002016.2

p.G815A

c.2444G>C

1 paper

NM_002016.2

p.G815_V816del2

c.2443_2447del6

1 paper

NM_002016.2

p.T814I

c.2441C>T

1 paper

NM_002016.2

p.Q818E

c.2452C>G

1 paper

NM_002016.2

p.G811G

c.2433G>T

1 paper

NM_002016.2

p.S820Y

c.2459C>A

2 papers

NM_002016.2

p.W809*

c.2427G>A

2 papers

NM_002016.2

p.W809*

c.2426G>A

1 paper

NM_002016.2

p.W809R

c.2425T>C

1 paper

NM_002016.2

p.W809R

c.2425T>A

1 paper

NM_002016.2

p.E823delFs

c.2468delT

1 paper

NM_002016.2

p.S806F

c.2417C>T