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.E1648D

c.4944G>C

Surrounding Variants

2 papers

NM_002016.2

p.E1648D

c.4944G>T

1 paper

NM_002016.2

p.H1643R

c.4928A>G

1 paper

NM_002016.2

p.T1655N

c.4964C>A

1 paper

NM_002016.2

p.R1656C

c.4966C>T

1 paper

NM_002016.2

p.D1639N

c.4915G>A

1 paper

NM_002016.2

p.T1660S

c.4978A>T

1 paper

NM_002016.2

p.Q1637delFs

c.4909delG

1 paper

NM_002016.2

p.T1660I

c.4979C>T

1 paper

NM_002016.2

p.T1660S

c.4979C>G

1 paper

NM_002016.2

p.R1634T

c.4901G>C

2 papers

NM_002016.2

p.G1663V

c.4988G>T

2 papers

NM_002016.2

p.N1632delFs

c.4895delT