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.S555S

c.1665T>G

Surrounding Variants

4 papers

NM_002016.2

p.H559R

c.1676A>G

1 paper

NM_002016.2

p.T550A

c.1648A>G

1 paper

NM_002016.2

p.H548Y

c.1642C>T

1 paper

NM_002016.2

p.S547fs

c.1639_1640fs

3 papers

NM_002016.2

p.S547delFs

c.1640delC

1 paper

NM_002016.2

p.S564F

c.1691C>T

1 paper

NM_002016.2

p.R565*

c.1693A>T

1 paper

NM_002016.2

p.H546P

c.1637A>C

1 paper

NM_002016.2

p.S544S

c.1632C>T

2 papers

NM_002016.2

p.Q570*

c.1708C>T

2 papers

NM_002016.2

p.R572*

c.1714C>T

2 papers

NM_002016.2

p.R572Q

c.1715G>A