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.S1554insFs

c.4660_4661insA

Surrounding Variants

2 papers

NM_002016.2

p.G1558A

c.4673G>C

1 paper

NM_002016.2

p.E1548K

c.4642G>A

2 papers

NM_002016.2

p.R1560C

c.4678C>T

2 papers

NM_002016.2

p.R1560H

c.4679G>A

1 paper

NM_002016.2

p.P1564A

c.4690C>G

1 paper

NM_002016.2

p.T1566N

c.4697C>A

1 paper

NM_002016.2

p.R1567Q

c.4700G>A

1 paper

NM_002016.2

p.S1570delFs

c.4709delC

1 paper

NM_002016.2

p.P1537S

c.4609C>T

1 paper

NM_002016.2

p.S1574*

c.4721C>G

1 paper

NM_002016.2

p.S1574*

c.4721C>A

1 paper

NM_002016.2

p.S1574delFs

c.4720_4721delGA