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.H844R

c.2531A>G

Surrounding Variants

1 paper

NM_002016.2

p.P845L

c.2534C>T

1 paper

NM_002016.2

p.Q838_R842insFs

c.2513_2525dup13

1 paper

NM_002016.2

p.S847P

c.2539T>C

2 papers

NM_002016.2

p.S847*

c.2540C>G

2 papers

NM_002016.2

p.S847*

c.2540C>A

1 paper

NM_002016.2

p.S847delFs

c.2540delG

1 paper

NM_002016.2

p.S848R

c.2542A>C

1 paper

NM_002016.2

p.S848R

c.2544C>G

1 paper

NM_002016.2

p.S848R

c.2544C>A

1 paper

NM_002016.2

p.Q838*

c.2512C>T

1 paper

NM_002016.2

p.G837S

c.2509G>A

7 papers

NM_002016.2

p.D836D

c.2508T>C