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.Q2969*

c.8905C>T

Surrounding Variants

5 papers

NM_002016.2

p.R2971*

c.8911A>T

1 paper

NM_002016.2

p.S2972*

c.8915C>G

1 paper

NM_002016.2

p.S2972*

c.8915C>A

1 paper

NM_002016.2

p.A2974P

c.8920G>C

1 paper

NM_002016.2

p.Q2962fs

c.8884_8885fs

1 paper

NM_002016.2

p.Q2962delFs

c.8885delT

1 paper

NM_002016.2

p.E2976D

c.8928A>T

1 paper

NM_002016.2

p.E2976E

c.8928A>G

1 paper

NM_002016.2

p.E2976D

c.8928A>C

3 papers

NM_002016.2

p.E2976_R2977del2

c.8926_8930del6

2 papers

NM_002016.2

p.R2953H

c.8858G>A

1 paper

NM_002016.2

p.S2946N

c.8837G>A