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

2 papers

NM_002016.2

p.S1405*

c.4214C>G

Surrounding Variants

2 papers

NM_002016.2

p.S1405*

c.4214C>A

1 paper

NM_002016.2

p.Q1408fs

c.4222_4223fs

2 papers

NM_002016.2

p.Q1408delFs

c.4222_4223delTG

1 paper

NM_002016.2

p.H1401R

c.4202A>G

1 paper

NM_002016.2

p.S1398_E1399delFs

c.4194_4197del4

1 paper

NM_002016.2

p.N1397D

c.4189A>G

1 paper

NM_002016.2

p.G1414R

c.4240G>C

1 paper

NM_002016.2

p.G1414R

c.4240G>A

1 paper

NM_002016.2

p.V1395A

c.4184T>C

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.G1392D

c.4175G>A