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.L2224Q

c.6671T>A

Surrounding Variants

1 paper

NM_002016.2

p.V2225A

c.6674T>C

5 papers

NM_002016.2

p.G2226V

c.6677G>T

3 papers

NM_002016.2

p.G2228*

c.6682G>T

1 paper

NM_002016.2

p.G2228E

c.6683G>A

1 paper

NM_002016.2

p.D2218N

c.6652G>A

2 papers

NM_002016.2

p.S2231A

c.6691T>G

4 papers

NM_002016.2

p.S2231*

c.6692C>G

4 papers

NM_002016.2

p.S2231*

c.6692C>A

3 papers

NM_002016.2

p.P2233S

c.6697C>T

2 papers

NM_002016.2

p.T2235R

c.6704C>G

1 paper

NM_002016.2

p.T2235K

c.6704C>A

1 paper

NM_002016.2

p.H2211D

c.6631C>G