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

6 papers

NM_002016.2

p.Q3029*

c.9085C>T

Surrounding Variants

1 paper

NM_002016.2

p.S3026*

c.9077C>G

1 paper

NM_002016.2

p.S3026*

c.9077C>A

1 paper

NM_002016.2

p.E3024fs

c.9070_9071fs

1 paper

NM_002016.2

p.S3014_E3020insFs

c.9040_9058dup19

1 paper

NM_002016.2

p.S3039P

c.9115T>C

1 paper

NM_002016.2

p.Q3042R

c.9125A>G

1 paper

NM_002016.2

p.Y3011S

c.9032A>C

1 paper

NM_002016.2

p.G3010R

c.9028G>C

1 paper

NM_002016.2

p.G3010R

c.9028G>A

2 papers

NM_002016.2

p.R3009*

c.9025C>T

1 paper

NM_002016.2

p.H3058Q

c.9174T>G

1 paper

NM_002016.2

p.H3058Q

c.9174T>A