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

55 papers

NM_002016.2

p.S3296*

c.9887C>A

Surrounding Variants

1 paper

NM_002016.2

p.S3296L

c.9887C>T

54 papers

NM_002016.2

p.S3296*

c.9887C>G

1 paper

NM_002016.2

p.P3298A

c.9892C>G

1 paper

NM_002016.2

p.E3292G

c.9875A>G

1 paper

NM_002016.2

p.H3291D

c.9871C>G

1 paper

NM_002016.2

p.R3305C

c.9913C>T

1 paper

NM_002016.2

p.R3305H

c.9914G>A

1 paper

NM_002016.2

p.Q3286*

c.9856C>T

1 paper

NM_002016.2

p.G3285*

c.9853G>T

2 papers

NM_002016.2

p.E3280Q

c.9838G>C

2 papers

NM_002016.2

p.A3279T

c.9835G>A

20 papers

NM_002016.2

p.S3316*

c.9947C>G