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.S418delFs

c.1252delT

Surrounding Variants

2 papers

NM_002016.2

p.S417fs

c.1249_1250fs

26 papers

NM_002016.2

p.S417insFs

c.1249_1250insG

3 papers

NM_002016.2

p.S417fs

c.1249_1250fs

1 paper

NM_002016.2

p.R415L

c.1244G>T

1 paper

NM_002016.2

p.R415Q

c.1244G>A

3 papers

NM_002016.2

p.R412R

c.1236T>C

1 paper

NM_002016.2

p.D424H

c.1270G>C

1 paper

NM_002016.2

p.S423delFs

c.1269delA

1 paper

NM_002016.2

p.S406_S410delFs

c.1218_1230del13

1 paper

NM_002016.2

p.G427*

c.1279G>T

10 papers

NM_002016.2

p.S406*

c.1217C>G

10 papers

NM_002016.2

p.S406*

c.1217C>A