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

17 papers

NM_002016.2

p.T454A

c.1360A>G

Surrounding Variants

1 paper

NM_002016.2

p.T454K

c.1361C>A

1 paper

NM_002016.2

p.E452D

c.1356G>T

1 paper

NM_002016.2

p.E452D

c.1356G>C

1 paper

NM_002016.2

p.E452K

c.1354G>A

1 paper

NM_002016.2

p.Q451Q

c.1353A>G

1 paper

NM_002016.2

p.R457W

c.1369C>T

1 paper

NM_002016.2

p.S449G

c.1345A>G

1 paper

NM_002016.2

p.G459E

c.1376G>A

1 paper

NM_002016.2

p.R461W

c.1381C>T

1 paper

NM_002016.2

p.Q447*

c.1339C>T

8 papers

NM_002016.2

p.G444R

c.1330G>C

8 papers

NM_002016.2

p.G444R

c.1330G>A