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.E1605K

c.4813G>A

Surrounding Variants

2 papers

NM_002016.2

p.H1603_S1604insFs

c.4808_4812dup5

1 paper

NM_002016.2

p.E1605fs

c.4813_4814fs

1 paper

NM_002016.2

p.D1606delFs

c.4816delC

1 paper

NM_002016.2

p.S1607_E1608delFs

c.4821_4822delCA

2 papers

NM_002016.2

p.E1601Q

c.4801G>C

1 paper

NM_002016.2

p.R1610W

c.4828C>T

1 paper

NM_002016.2

p.R1610Q

c.4829G>A

3 papers

NM_002016.2

p.S1595_Q1596delFs

c.4785_4788del4

2 papers

NM_002016.2

p.Q1596*

c.4786C>T

1 paper

NM_002016.2

p.S1595fs

c.4783_4784fs

1 paper

NM_002016.2

p.S1595I

c.4784G>T

1 paper

NM_002016.2

p.A1614del1

c.4840_4841delAGC