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.N186fs

c.556_557fs

Surrounding Variants

3 papers

NM_002016.2

p.N186fs

c.556_557fs

7 papers

NM_002016.2

p.N186insFs

c.557dupA

1 paper

NM_002016.2

p.K187insFs

c.560dupA

1 paper

NM_002016.2

p.T188fs

c.562_563fs

2 papers

NM_002016.2

p.K182*

c.544A>T

1 paper

NM_002016.2

p.L193insFs

c.578_579insG

1 paper

NM_002016.2

p.H177P

c.530A>C

1 paper

NM_002016.2

p.N176insFs

c.527dupA

1 paper

NM_002016.2

p.N176T

c.527A>C

1 paper

NM_002016.2

p.G174G

c.522A>G

1 paper

NM_002016.2

p.Y173delFs

c.519delA

1 paper

NM_002016.2

p.K198Q

c.592A>C