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

8 papers

NM_002016.2

p.R3564H

c.10691G>A

Surrounding Variants

5 papers

NM_002016.2

p.R3564L

c.10691G>T

1 paper

NM_002016.2

p.G3565E

c.10694G>A

1 paper

NM_002016.2

p.A3567S

c.10699G>T

6 papers

NM_002016.2

p.Q3568E

c.10702C>G

1 paper

NM_002016.2

p.S3560F

c.10679C>T

1 paper

NM_002016.2

p.S3560Y

c.10679C>A

4 papers

NM_002016.2

p.Q3568R

c.10703A>G

1 paper

NM_002016.2

p.Q3568delins

c.10702_10703delinsGG

4 papers

NM_002016.2

p.S3558P

c.10672T>C

2 papers

NM_002016.2

p.D3573H

c.10717G>C

7 papers

NM_002016.2

p.W3555R

c.10663T>C

7 papers

NM_002016.2

p.W3555R

c.10663T>A