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

6 papers

NM_002016.2

p.R3270C

c.9808C>T

Surrounding Variants

1 paper

NM_002016.2

p.R3272fs

c.9814_9815fs

3 papers

NM_002016.2

p.R3272_Q3273delFs

c.9815_9818del4

1 paper

NM_002016.2

p.H3264H

c.9792C>T

1 paper

NM_002016.2

p.A3262T

c.9784G>A

2 papers

NM_002016.2

p.A3279T

c.9835G>A

2 papers

NM_002016.2

p.E3280Q

c.9838G>C

2 papers

NM_002016.2

p.H3258Q

c.9774C>G

2 papers

NM_002016.2

p.H3258Q

c.9774C>A

1 paper

NM_002016.2

p.H3258L

c.9773A>T

1 paper

NM_002016.2

p.G3285*

c.9853G>T

1 paper

NM_002016.2

p.P3254H

c.9761C>A

1 paper

NM_002016.2

p.Q3286*

c.9856C>T