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.R2032S

c.6096A>T

Surrounding Variants

1 paper

NM_002016.2

p.R2032S

c.6096A>C

1 paper

NM_002016.2

p.S2034G

c.6100A>G

14 papers

NM_002016.2

p.R2037*

c.6109C>T

1 paper

NM_002016.2

p.G2023_S2028delFs

c.6067_6082del16

1 paper

NM_002016.2

p.R2037Q

c.6110G>A

1 paper

NM_002016.2

p.G2025E

c.6074G>A

2 papers

NM_002016.2

p.G2025*

c.6073G>T

1 paper

NM_002016.2

p.H2024H

c.6072T>C

1 paper

NM_002016.2

p.G2021G

c.6063C>T

4 papers

NM_002016.2

p.S2020A

c.6058T>G

2 papers

NM_002016.2

p.S2020T

c.6058T>A

7 papers

NM_002016.2

p.S2045T

c.6134G>C