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

11 papers

NM_002016.2

p.R1798*

c.5392C>T

Surrounding Variants

1 paper

NM_002016.2

p.S1800R

c.5398A>C

1 paper

NM_002016.2

p.S1800N

c.5399G>A

1 paper

NM_002016.2

p.S1800R

c.5400C>G

1 paper

NM_002016.2

p.S1800R

c.5400C>A

14 papers

NM_002016.2

p.E1795*

c.5383G>T

2 papers

NM_002016.2

p.E1795K

c.5383G>A

1 paper

NM_002016.2

p.H1794H

c.5382C>T

3 papers

NM_002016.2

p.R1793H

c.5378G>A

1 paper

NM_002016.2

p.R1791delFs

c.5371delT

1 paper

NM_002016.2

p.A1805T

c.5413G>A

1 paper

NM_002016.2

p.R1791G

c.5371A>G

10 papers

NM_002016.2

p.A1805V

c.5414C>T