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.P3529S

c.10585C>T

Surrounding Variants

14 papers

NM_002016.2

p.R3530S

c.10590G>T

14 papers

NM_002016.2

p.R3530S

c.10590G>C

1 paper

NM_002016.2

p.T3531R

c.10592C>G

1 paper

NM_002016.2

p.S3532R

c.10594A>C

1 paper

NM_002016.2

p.S3532R

c.10596C>G

1 paper

NM_002016.2

p.S3532R

c.10596C>A

1 paper

NM_002016.2

p.G3524delFs

c.10571delC

1 paper

NM_002016.2

p.G3524*

c.10570G>T

4 papers

NM_002016.2

p.N3534Y

c.10600A>T

2 papers

NM_002016.2

p.N3534H

c.10600A>C

1 paper

NM_002016.2

p.G3524fs

c.10570_10571fs

5 papers

NM_002016.2

p.N3534S

c.10601A>G