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.N1293N

c.3879C>T

Surrounding Variants

2 papers

NM_002016.2

p.S1297Y

c.3890C>A

2 papers

NM_002016.2

p.S1298delFs

c.3892delA

1 paper

NM_002016.2

p.S1298fs

c.3892_3893fs

1 paper

NM_002016.2

p.R1299W

c.3895C>T

3 papers

NM_002016.2

p.R1299Q

c.3896G>A

1 paper

NM_002016.2

p.R1285K

c.3854G>A

1 paper

NM_002016.2

p.S1302L

c.3905C>T

14 papers

NM_002016.2

p.S1302*

c.3905C>G

15 papers

NM_002016.2

p.S1302*

c.3905C>A

1 paper

NM_002016.2

p.R1303*

c.3907A>T

1 paper

NM_002016.2

p.E1284*

c.3850G>T

1 paper

NM_002016.2

p.G1305S

c.3913G>A