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

2 papers

NM_002016.2

p.R1203S

c.3609G>C

Surrounding Variants

2 papers

NM_002016.2

p.R1203S

c.3609G>T

1 paper

NM_002016.2

p.T1198_T1199delFs

c.3593_3597del5

2 papers

NM_002016.2

p.S1207Y

c.3620C>A

1 paper

NM_002016.2

p.G1209delFs

c.3625delC

2 papers

NM_002016.2

p.S1196T

c.3587G>C

1 paper

NM_002016.2

p.H1195P

c.3584A>C

1 paper

NM_002016.2

p.S1193T

c.3577T>A

1 paper

NM_002016.2

p.S1215G

c.3643A>G

3 papers

NM_002016.2

p.S1215R

c.3643A>C

1 paper

NM_002016.2

p.G1192R

c.3574G>C

1 paper

NM_002016.2

p.G1192R

c.3574G>A

3 papers

NM_002016.2

p.S1215R

c.3645T>G