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.S3935P

c.11803T>C

Surrounding Variants

1 paper

NM_002016.2

p.L3934F

c.11800C>T

1 paper

NM_002016.2

p.S3933N

c.11798G>A

1 paper

NM_002016.2

p.S3932G

c.11794A>G

1 paper

NM_002016.2

p.H3941R

c.11822A>G

1 paper

NM_002016.2

p.R3947C

c.11839C>T

1 paper

NM_002016.2

p.S3922T

c.11764T>A

2 papers

NM_002016.2

p.G3948C

c.11842G>T

2 papers

NM_002016.2

p.H3951insFs

c.11851dupC

1 paper

NM_002016.2

p.H3951fs

c.11851_11852fs

1 paper

NM_002016.2

p.H3912R

c.11735A>G

1 paper

NM_002016.2

p.Q3959Q

c.11877A>G

3 papers

NM_002016.2

p.D3908N

c.11722G>A