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.G1015R

c.3043G>C

Surrounding Variants

1 paper

NM_002016.2

p.G1015D

c.3044G>A

2 papers

NM_002016.2

p.T1012delFs

c.3036delA

1 paper

NM_002016.2

p.E1011_T1012delFs

c.3033_3034delTC

1 paper

NM_002016.2

p.A1019A

c.3057G>A

1 paper

NM_002016.2

p.S1020P

c.3058T>C

8 papers

NM_002016.2

p.S1020*

c.3059C>G

8 papers

NM_002016.2

p.S1020*

c.3059C>A

1 paper

NM_002016.2

p.E1023A

c.3068A>C

1 paper

NM_002016.2

p.G1006G

c.3018A>C

1 paper

NM_002016.2

p.S1005*

c.3014C>G

1 paper

NM_002016.2

p.S1005*

c.3014C>A

1 paper

NM_002016.2

p.A1025P

c.3073G>C