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.R3483S

c.10449A>C

Surrounding Variants

1 paper

NM_002016.2

p.R3483S

c.10449A>T

1 paper

NM_002016.2

p.A3485V

c.10454C>T

1 paper

NM_002016.2

p.G3481E

c.10442G>A

1 paper

NM_002016.2

p.R3487*

c.10459A>T

1 paper

NM_002016.2

p.G3478A

c.10433G>C

1 paper

NM_002016.2

p.R3477delFs

c.10430delC

1 paper

NM_002016.2

p.R3490P

c.10469G>C

2 papers

NM_002016.2

p.R3490_N3491del1

c.10469_10471delTAC

5 papers

NM_002016.2

p.N3491N

c.10473T>C

1 paper

NM_002016.2

p.D3492D

c.10476C>T

1 paper

NM_002016.2

p.D3492E

c.10476C>G

2 papers

NM_002016.2

p.D3492_E3493ins1

c.10476_10477insAAG