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.S2532L

c.7595C>T

Surrounding Variants

1 paper

NM_002016.2

p.G2526D

c.7577G>A

1 paper

NM_002016.2

p.G2526S

c.7576G>A

4 papers

NM_002016.2

p.R2540Q

c.7619G>A

1 paper

NM_002016.2

p.D2520N

c.7558G>A

14 papers

NM_002016.2

p.G2545R

c.7633G>C

14 papers

NM_002016.2

p.G2545R

c.7633G>A

1 paper

NM_002016.2

p.N2519N

c.7557C>T

1 paper

NM_002016.2

p.N2519K

c.7557C>G

1 paper

NM_002016.2

p.N2519K

c.7557C>A

1 paper

NM_002016.2

p.N2519T

c.7556A>C

1 paper

NM_002016.2

p.N2519D

c.7555A>G

1 paper

NM_002016.2

p.H2546N

c.7636C>A