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.R782W

c.2344C>T

Surrounding Variants

1 paper

NM_002016.2

p.R782L

c.2345G>T

2 papers

NM_002016.2

p.D781G

c.2342A>G

3 papers

NM_002016.2

p.D781H

c.2341G>C

1 paper

NM_002016.2

p.S783*

c.2348C>G

1 paper

NM_002016.2

p.S783*

c.2348C>A

1 paper

NM_002016.2

p.E777delFs

c.2329delC

2 papers

NM_002016.2

p.S787F

c.2360C>T

7 papers

NM_002016.2

p.R788*

c.2362C>T

1 paper

NM_002016.2

p.Q776K

c.2326C>A

1 paper

NM_002016.2

p.R788Q

c.2363G>A

1 paper

NM_002016.2

p.R789G

c.2365C>G

1 paper

NM_002016.2

p.R789S

c.2365C>A