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.H496Q

c.1488C>A

Surrounding Variants

1 paper

NM_002016.2

p.H496Q

c.1488C>G

1 paper

NM_002016.2

p.H497L

c.1490A>T

1 paper

NM_002016.2

p.H497H

c.1491C>T

5 papers

NM_002016.2

p.E498D

c.1494G>T

5 papers

NM_002016.2

p.E498D

c.1494G>C

1 paper

NM_002016.2

p.G491_Q493delFs

c.1472_1478del7

509 papers

NM_002016.2

p.R501*

c.1501C>T

1 paper

NM_002016.2

p.R501G

c.1501C>G

2 papers

NM_002016.2

p.R501Q

c.1502G>A

1 paper

NM_002016.2

p.G491V

c.1472G>T

1 paper

NM_002016.2

p.G491E

c.1472G>A

1 paper

NM_002016.2

p.D502G

c.1505A>G