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.R1032K

c.3095G>A

Surrounding Variants

2 papers

NM_002016.2

p.H1033Q

c.3099C>G

1 paper

NM_002016.2

p.H1033Q

c.3099C>A

1 paper

NM_002016.2

p.G1034*

c.3100G>T

1 paper

NM_002016.2

p.R1036H

c.3107G>A

1 paper

NM_002016.2

p.H1037N

c.3109C>A

1 paper

NM_002016.2

p.Q1039H

c.3117G>T

1 paper

NM_002016.2

p.A1025P

c.3073G>C

1 paper

NM_002016.2

p.A1025T

c.3073G>A

5 papers

NM_002016.2

p.S1040*

c.3119C>G

5 papers

NM_002016.2

p.S1040*

c.3119C>A

1 paper

NM_002016.2

p.E1023A

c.3068A>C

8 papers

NM_002016.2

p.S1020*

c.3059C>G