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.Y215N

c.643T>A

Surrounding Variants

1 paper

NM_002016.2

p.Y215H

c.643T>C

1 paper

NM_002016.2

p.D216D

c.648T>C

1 paper

NM_002016.2

p.Y217Fs

c.649_650delinsGFs

1 paper

NM_002016.2

p.T220A

c.658A>G

2 papers

NM_002016.2

p.T220delFs

c.660delT

1 paper

NM_002016.2

p.K207_E208delFs

c.621_624del4

1 paper

NM_002016.2

p.G221fs

c.661_662fs

1 paper

NM_002016.2

p.E208*

c.622G>T

1 paper

NM_002016.2

p.E206D

c.618G>T

1 paper

NM_002016.2

p.E206D

c.618G>C

2 papers

NM_002016.2

p.K226delFs

c.678delT

1 paper

NM_002016.2

p.I228T

c.683T>C