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.S3354fs

c.10060_10061fs

Surrounding Variants

1 paper

NM_002016.2

p.D3351_T3352delFs

c.10051_10054del4

1 paper

NM_002016.2

p.G3359*

c.10075G>T

2 papers

NM_002016.2

p.E3349D

c.10047G>T

2 papers

NM_002016.2

p.E3349D

c.10047G>C

1 paper

NM_002016.2

p.E3349*

c.10045G>T

2 papers

NM_002016.2

p.G3362delFs

c.10086delC

1 paper

NM_002016.2

p.H3346Y

c.10036C>T

1 paper

NM_002016.2

p.H3364fs

c.10090_10091fs

1 paper

NM_002016.2

p.Q3365*

c.10093C>T

1 paper

NM_002016.2

p.E3344G

c.10031A>G

4 papers

NM_002016.2

p.Q3339Q

c.10017G>A

1 paper

NM_002016.2

p.S3338delFs

c.10013delC