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.E2250Q

c.6748G>C

Surrounding Variants

1 paper

NM_002016.2

p.S2244R

c.6732C>G

1 paper

NM_002016.2

p.S2244R

c.6732C>A

1 paper

NM_002016.2

p.S2244R

c.6730A>C

1 paper

NM_002016.2

p.V2243L

c.6727G>C

1 paper

NM_002016.2

p.R2259P

c.6776G>C

2 papers

NM_002016.2

p.R2239Q

c.6716G>A

1 paper

NM_002016.2

p.R2239W

c.6715C>T

1 paper

NM_002016.2

p.T2235_P2238del4

c.6703_6713del12

1 paper

NM_002016.2

p.G2261V

c.6782G>T

4 papers

NM_002016.2

p.P2238R

c.6713C>G

3 papers

NM_002016.2

p.A2263A

c.6789G>T

2 papers

NM_002016.2

p.A2263A

c.6789G>A