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.R2077C

c.6229C>T

Surrounding Variants

1 paper

NM_002016.2

p.G2078A

c.6233G>C

1 paper

NM_002016.2

p.S2075S

c.6225C>T

5 papers

NM_002016.2

p.E2074Q

c.6220G>C

6 papers

NM_002016.2

p.S2080*

c.6239C>G

6 papers

NM_002016.2

p.S2080*

c.6239C>A

1 paper

NM_002016.2

p.K2073Q

c.6217A>C

1 paper

NM_002016.2

p.K2073fs

c.6217_6218fs

1 paper

NM_002016.2

p.S2083R

c.6247A>C

1 paper

NM_002016.2

p.S2083R

c.6249C>G

1 paper

NM_002016.2

p.S2083R

c.6249C>A

3 papers

NM_002016.2

p.Q2070*

c.6208C>T

1 paper

NM_002016.2

p.H2068Q

c.6204T>G