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.E2197K

c.6589G>A

Surrounding Variants

10 papers

NM_002016.2

p.Y2194H

c.6580T>C

3 papers

NM_002016.2

p.D2201D

c.6603T>C

1 paper

NM_002016.2

p.G2202S

c.6604G>A

1 paper

NM_002016.2

p.D2201_G2202delins

c.6603_6604delinsCA

9 papers

NM_002016.2

p.K2192Q

c.6574A>C

1 paper

NM_002016.2

p.R2191T

c.6572G>C

1 paper

NM_002016.2

p.R2204K

c.6611G>A

2 papers

NM_002016.2

p.S2188R

c.6564T>G

2 papers

NM_002016.2

p.S2188R

c.6564T>A

2 papers

NM_002016.2

p.S2188R

c.6562A>C

1 paper

NM_002016.2

p.R2187G

c.6559A>G

1 paper

NM_002016.2

p.S2208L

c.6623C>T