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.Q802*

c.2404C>T

Surrounding Variants

1 paper

NM_002016.2

p.Q802R

c.2405A>G

1 paper

NM_002016.2

p.K801_Q802delFs

c.2402_2405del4

2 papers

NM_002016.2

p.S803P

c.2407T>C

2 papers

NM_002016.2

p.K801E

c.2401A>G

2 papers

NM_002016.2

p.H800Q

c.2400T>A

1 paper

NM_002016.2

p.S803F

c.2408C>T

1 paper

NM_002016.2

p.T799I

c.2396C>T

1 paper

NM_002016.2

p.S798delFs

c.2394delG

4 papers

NM_002016.2

p.S805F

c.2414C>T

1 paper

NM_002016.2

p.S805C

c.2414C>G

1 paper

NM_002016.2

p.S798fs

c.2392_2393fs

1 paper

NM_002016.2

p.F793_S798delins

c.2379_2394delinsTCCTCAG