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.P2142T

c.6424C>A

Surrounding Variants

1 paper

NM_002016.2

p.P2142L

c.6425C>T

1 paper

NM_002016.2

p.P2142Q

c.6425C>A

1 paper

NM_002016.2

p.G2140R

c.6418G>C

1 paper

NM_002016.2

p.G2140R

c.6418G>A

3 papers

NM_002016.2

p.P2144S

c.6430C>T

1 paper

NM_002016.2

p.R2139H

c.6416G>A

1 paper

NM_002016.2

p.R2139delFs

c.6415delG

1 paper

NM_002016.2

p.R2139C

c.6415C>T

1 paper

NM_002016.2

p.G2147A

c.6440G>C

1 paper

NM_002016.2

p.D2136N

c.6406G>A

1 paper

NM_002016.2

p.Q2135E

c.6403C>G

1 paper

NM_002016.2

p.E2133D

c.6399G>T