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.K1424Q

c.4270A>C

Surrounding Variants

2 papers

NM_002016.2

p.K1424fs

c.4270_4271fs

1 paper

NM_002016.2

p.K1424fs

c.4270_4271fs

1 paper

NM_002016.2

p.K1424delFs

c.4271delT

4 papers

NM_002016.2

p.K1424delFs

c.4271_4272delTT

1 paper

NM_002016.2

p.S1426S

c.4278C>T

1 paper

NM_002016.2

p.A1427T

c.4279G>A

1 paper

NM_002016.2

p.Q1430R

c.4289A>G

1 paper

NM_002016.2

p.G1417R

c.4249G>C

1 paper

NM_002016.2

p.G1417R

c.4249G>A

1 paper

NM_002016.2

p.E1433*

c.4297G>T

1 paper

NM_002016.2

p.E1433K

c.4297G>A

1 paper

NM_002016.2

p.G1414R

c.4240G>C